UniProtKB - Q6ZUT3 (FRMD7_HUMAN)
Protein
FERM domain-containing protein 7
Gene
FRMD7
Organism
Homo sapiens (Human)
Status
Functioni
Plays a role in neurite development, may be through the activation of the GTPase RAC1. Plays a role in the control of eye movement and gaze stability.By similarity2 Publications
GO - Biological processi
- negative regulation of protein binding Source: Ensembl
- negative regulation of stress fiber assembly Source: Ensembl
- nervous system development Source: UniProtKB-KW
- positive regulation of lamellipodium assembly Source: Ensembl
- positive regulation of small GTPase mediated signal transduction Source: Ensembl
- regulation of neuron projection development Source: UniProtKB
Keywordsi
Biological process | Neurogenesis |
Enzyme and pathway databases
PathwayCommonsi | Q6ZUT3 |
Names & Taxonomyi
Protein namesi | Recommended name: FERM domain-containing protein 7 |
Gene namesi | Name:FRMD7 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8079, FRMD7 |
MIMi | 300628, gene |
neXtProti | NX_Q6ZUT3 |
VEuPathDBi | HostDB:ENSG00000165694.9 |
Subcellular locationi
Other locations
- neuron projection By similarity
- growth cone By similarity
Note: In undifferentiated neurons, located in the actin-rich regions of the cell body. In differentiated neurons, located in the actin-rich regions of the cell body and primary neurite processes but is almost absent from secondary extensions arising from the primary neurite. Also found at the actin-rich distal end of growth cones (By similarity).By similarity
Cytoskeleton
- cytoskeleton Source: InterPro
Extracellular region or secreted
- extracellular space Source: UniProtKB
Other locations
- growth cone Source: UniProtKB
- neuron projection Source: UniProtKB
- neuronal cell body Source: UniProtKB
Keywords - Cellular componenti
Cell projectionPathology & Biotechi
Involvement in diseasei
Nystagmus congenital X-linked 1 (NYS1)12 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062650 | 14 | Missing in NYS1. 1 Publication | 1 | |
Natural variantiVAR_072102 | 16 | F → S in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028951 | 24 | G → E in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028952 | 24 | G → R in NYS1. 3 PublicationsCorresponds to variant dbSNP:rs137852210EnsemblClinVar. | 1 | |
Natural variantiVAR_062651 | 24 | G → W in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028953 | 142 | L → R in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs137852211EnsemblClinVar. | 1 | |
Natural variantiVAR_062652 | 146 | R → W in NYS1. 1 PublicationCorresponds to variant dbSNP:rs780995406Ensembl. | 1 | |
Natural variantiVAR_072103 | 208 | H → R in NYS1. 1 Publication | 1 | |
Natural variantiVAR_072104 | 212 | L → P in NYS1; decreased RAC1 activity. 1 Publication | 1 | |
Natural variantiVAR_028954 | 221 | N → D in NYS1. 1 Publication | 1 | |
Natural variantiVAR_062653 | 225 | W → G in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028955 | 226 | A → T in NYS1. 2 Publications | 1 | |
Natural variantiVAR_062654 | 229 | R → C in NYS1. 1 PublicationCorresponds to variant dbSNP:rs137852212EnsemblClinVar. | 1 | |
Natural variantiVAR_062655 | 229 | R → G in NYS1. 1 PublicationCorresponds to variant dbSNP:rs137852212EnsemblClinVar. | 1 | |
Natural variantiVAR_028956 | 231 | L → V in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906720EnsemblClinVar. | 1 | |
Natural variantiVAR_062656 | 261 | R → G in NYS1. 1 Publication | 1 | |
Natural variantiVAR_062657 | 261 | R → Q in NYS1. 1 PublicationCorresponds to variant dbSNP:rs1332489637Ensembl. | 1 | |
Natural variantiVAR_028957 | 266 | A → P in NYS1. 2 Publications | 1 | |
Natural variantiVAR_062658 | 271 | C → F in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906721EnsemblClinVar. | 1 | |
Natural variantiVAR_072105 | 271 | C → S in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028958 | 271 | C → Y in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906721EnsemblClinVar. | 1 | |
Natural variantiVAR_062659 | 275 | H → P in NYS1. 1 Publication | 1 | |
Natural variantiVAR_062660 | 296 | G → R in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028960 | 301 | Y → C in NYS1. 1 PublicationCorresponds to variant dbSNP:rs1297486092Ensembl. | 1 | |
Natural variantiVAR_072106 | 306 | Q → R in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028961 | 340 | S → L in NYS1. 2 Publications | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 90167 |
GeneReviewsi | FRMD7 |
MalaCardsi | FRMD7 |
MIMi | 310700, phenotype |
OpenTargetsi | ENSG00000165694 |
Orphaneti | 651, NON RARE IN EUROPE: Idiopathic infantile nystagmus |
PharmGKBi | PA162388934 |
Miscellaneous databases
Pharosi | Q6ZUT3, Tbio |
Genetic variation databases
BioMutai | FRMD7 |
DMDMi | 74749680 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000259532 | 1 – 714 | FERM domain-containing protein 7Add BLAST | 714 |
Proteomic databases
MaxQBi | Q6ZUT3 |
PaxDbi | Q6ZUT3 |
PeptideAtlasi | Q6ZUT3 |
PRIDEi | Q6ZUT3 |
ProteomicsDBi | 68358 [Q6ZUT3-1] 68359 [Q6ZUT3-2] |
PTM databases
iPTMneti | Q6ZUT3 |
PhosphoSitePlusi | Q6ZUT3 |
Expressioni
Tissue specificityi
Expressed in liver, kidney, pancreas and at low levels in brain and heart. Expressed in embryonic brain and developing neural retina.1 Publication
Developmental stagei
In 37 day post-ovulation (dpo) embryos, expression is found in the mid- and hindbrain, regions known to be involved in motor control of eye movement, and in the ventricular zone of the forebrain. In 56 dpo embryos, expressed in the ventricular layer of the forebrain, midbrain, cerebellar primordium, spinal cord and the developing neural retina. In later development, highly expressed in postmitotic cells within the developing subplate and cortical plate.3 Publications
Gene expression databases
Bgeei | ENSG00000165694, Expressed in calcaneal tendon and 42 other tissues |
ExpressionAtlasi | Q6ZUT3, baseline and differential |
Genevisiblei | Q6ZUT3, HS |
Organism-specific databases
HPAi | ENSG00000165694, Group enriched (endometrium, kidney, smooth muscle) |
Interactioni
Binary interactionsi
Q6ZUT3
With | #Exp. | IntAct |
---|---|---|
CLNS1A [P54105] | 3 | EBI-12325851,EBI-724693 |
Protein-protein interaction databases
BioGRIDi | 124672, 3 interactors |
IntActi | Q6ZUT3, 1 interactor |
STRINGi | 9606.ENSP00000298542 |
Miscellaneous databases
RNActi | Q6ZUT3, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 2 – 282 | FERMPROSITE-ProRule annotationAdd BLAST | 281 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 537 – 558 | Sequence analysisAdd BLAST | 22 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG3531, Eukaryota |
GeneTreei | ENSGT00940000158972 |
HOGENOMi | CLU_030239_0_0_1 |
InParanoidi | Q6ZUT3 |
OMAi | DIMPPQV |
OrthoDBi | 476668at2759 |
PhylomeDBi | Q6ZUT3 |
TreeFami | TF317513 |
Family and domain databases
CDDi | cd14473, FERM_B-lobe, 1 hit cd13193, FERM_C_FARP1-like, 1 hit |
Gene3Di | 1.20.80.10, 1 hit 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR019749, Band_41_domain IPR041788, FARP1/FARP2/FRMD7_FERM_C IPR014847, FERM-adjacent IPR014352, FERM/acyl-CoA-bd_prot_sf IPR035963, FERM_2 IPR019748, FERM_central IPR019747, FERM_CS IPR000299, FERM_domain IPR018979, FERM_N IPR018980, FERM_PH-like_C IPR011993, PH-like_dom_sf IPR029071, Ubiquitin-like_domsf |
Pfami | View protein in Pfam PF08736, FA, 1 hit PF09380, FERM_C, 1 hit PF00373, FERM_M, 1 hit PF09379, FERM_N, 1 hit |
PRINTSi | PR00935, BAND41 |
SMARTi | View protein in SMART SM00295, B41, 1 hit SM01195, FA, 1 hit SM01196, FERM_C, 1 hit |
SUPFAMi | SSF47031, SSF47031, 1 hit SSF54236, SSF54236, 1 hit |
PROSITEi | View protein in PROSITE PS00660, FERM_1, 1 hit PS50057, FERM_3, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q6ZUT3-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MLHLKVQFLD DSQKIFVVDQ KSSGKALFNL SCSHLNLAEK EYFGLEFCSH
60 70 80 90 100
SGNNVWLELL KPITKQVKNP KEIVFKFMVK FFPVDPGHLR EELTRYLFTL
110 120 130 140 150
QIKKDLALGR LPCSDNCTAL MVSHILQSEL GDFHEETDRK HLAQTRYLPN
160 170 180 190 200
QDCLEGKIMH FHQKHIGRSP AESDILLLDI ARKLDMYGIR PHPASDGEGM
210 220 230 240 250
QIHLAVAHMG VLVLRGNTKI NTFNWAKIRK LSFKRKHFLI KLHANILVLC
260 270 280 290 300
KDTLEFTMAS RDACKAFWKT CVEYHAFFRL SEEPKSKPKT LLCSKGSSFR
310 320 330 340 350
YSGRTQRQLL EYGRKGRLKS LPFERKHYPS QYHERQCRSS PDLLSDVSKQ
360 370 380 390 400
VEDLRLAYGG GYYQNVNGVH ASEPVLESRR RNSALEVTFA TELEHSKPEA
410 420 430 440 450
DPTLLHQSQS SSSFPFIYMD PVFNTEPNPN PDPRDIFSER SSLSSFQTSC
460 470 480 490 500
KFSGNHMSIY SGLTSKVRPA KQLTYTDVPY IPCTGQQVGI MPPQVFFYVD
510 520 530 540 550
KPPQVPRWSP IRAEERTSPH SYVEPTAMKP AERSPRNIRM KSFQQDLQVL
560 570 580 590 600
QEAIARTSGR SNINVGLEEE DPNLEDAFVC NIQEQTPKRS QSQSDMKTIR
610 620 630 640 650
FPFGSEFRPL GPCPALSHKA DLFTDMFAEQ ELPAVLMDQS TAERYVASES
660 670 680 690 700
SDSESEILKP DYYALYGKEI RSPMARIRLS SGSLQLDEED EDAYFNTPTA
710
EDRTSLKPCN YFLA
Isoform 2 (identifier: Q6ZUT3-2) [UniParc]FASTAAdd to basket
Also known as: S
The sequence of this isoform differs from the canonical sequence as follows:
69-84: NPKEIVFKFMVKFFPV → M
Note: May play a role during neuronal differentiation and development. Shares a similar tissue distribution, co-localize with, and interact with isoform 1 in NT2 cells.Curated
Show »Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketX6R7S7 | X6R7S7_HUMAN | FERM domain-containing protein 7 | FRMD7 RP6-213H19.2, hCG_1646402 | 594 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_062650 | 14 | Missing in NYS1. 1 Publication | 1 | |
Natural variantiVAR_072102 | 16 | F → S in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028951 | 24 | G → E in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028952 | 24 | G → R in NYS1. 3 PublicationsCorresponds to variant dbSNP:rs137852210EnsemblClinVar. | 1 | |
Natural variantiVAR_062651 | 24 | G → W in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028953 | 142 | L → R in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs137852211EnsemblClinVar. | 1 | |
Natural variantiVAR_062652 | 146 | R → W in NYS1. 1 PublicationCorresponds to variant dbSNP:rs780995406Ensembl. | 1 | |
Natural variantiVAR_072103 | 208 | H → R in NYS1. 1 Publication | 1 | |
Natural variantiVAR_072104 | 212 | L → P in NYS1; decreased RAC1 activity. 1 Publication | 1 | |
Natural variantiVAR_028954 | 221 | N → D in NYS1. 1 Publication | 1 | |
Natural variantiVAR_062653 | 225 | W → G in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028955 | 226 | A → T in NYS1. 2 Publications | 1 | |
Natural variantiVAR_062654 | 229 | R → C in NYS1. 1 PublicationCorresponds to variant dbSNP:rs137852212EnsemblClinVar. | 1 | |
Natural variantiVAR_062655 | 229 | R → G in NYS1. 1 PublicationCorresponds to variant dbSNP:rs137852212EnsemblClinVar. | 1 | |
Natural variantiVAR_028956 | 231 | L → V in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906720EnsemblClinVar. | 1 | |
Natural variantiVAR_062656 | 261 | R → G in NYS1. 1 Publication | 1 | |
Natural variantiVAR_062657 | 261 | R → Q in NYS1. 1 PublicationCorresponds to variant dbSNP:rs1332489637Ensembl. | 1 | |
Natural variantiVAR_028957 | 266 | A → P in NYS1. 2 Publications | 1 | |
Natural variantiVAR_062658 | 271 | C → F in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906721EnsemblClinVar. | 1 | |
Natural variantiVAR_072105 | 271 | C → S in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028958 | 271 | C → Y in NYS1. 2 PublicationsCorresponds to variant dbSNP:rs387906721EnsemblClinVar. | 1 | |
Natural variantiVAR_062659 | 275 | H → P in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028959 | 281 | S → L. Corresponds to variant dbSNP:rs5977625EnsemblClinVar. | 1 | |
Natural variantiVAR_062660 | 296 | G → R in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028960 | 301 | Y → C in NYS1. 1 PublicationCorresponds to variant dbSNP:rs1297486092Ensembl. | 1 | |
Natural variantiVAR_072106 | 306 | Q → R in NYS1. 1 Publication | 1 | |
Natural variantiVAR_028961 | 340 | S → L in NYS1. 2 Publications | 1 | |
Natural variantiVAR_028962 | 468 | R → H. Corresponds to variant dbSNP:rs6637934EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_038722 | 69 – 84 | NPKEI…KFFPV → M in isoform 2. 1 PublicationAdd BLAST | 16 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | FJ717411 mRNA Translation: ACN56448.1 AK125336 mRNA Translation: BAC86135.1 AL049792 Genomic DNA No translation available. AL109749 Genomic DNA No translation available. BC114371 mRNA Translation: AAI14372.1 |
CCDSi | CCDS35397.1 [Q6ZUT3-1] CCDS78504.1 [Q6ZUT3-2] |
RefSeqi | NP_001293122.1, NM_001306193.1 [Q6ZUT3-2] NP_919253.1, NM_194277.2 [Q6ZUT3-1] |
Genome annotation databases
Ensembli | ENST00000298542; ENSP00000298542; ENSG00000165694 [Q6ZUT3-1] ENST00000464296; ENSP00000417996; ENSG00000165694 [Q6ZUT3-2] |
GeneIDi | 90167 |
KEGGi | hsa:90167 |
UCSCi | uc004ewn.4, human [Q6ZUT3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | FJ717411 mRNA Translation: ACN56448.1 AK125336 mRNA Translation: BAC86135.1 AL049792 Genomic DNA No translation available. AL109749 Genomic DNA No translation available. BC114371 mRNA Translation: AAI14372.1 |
CCDSi | CCDS35397.1 [Q6ZUT3-1] CCDS78504.1 [Q6ZUT3-2] |
RefSeqi | NP_001293122.1, NM_001306193.1 [Q6ZUT3-2] NP_919253.1, NM_194277.2 [Q6ZUT3-1] |
3D structure databases
SMRi | Q6ZUT3 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124672, 3 interactors |
IntActi | Q6ZUT3, 1 interactor |
STRINGi | 9606.ENSP00000298542 |
PTM databases
iPTMneti | Q6ZUT3 |
PhosphoSitePlusi | Q6ZUT3 |
Genetic variation databases
BioMutai | FRMD7 |
DMDMi | 74749680 |
Proteomic databases
MaxQBi | Q6ZUT3 |
PaxDbi | Q6ZUT3 |
PeptideAtlasi | Q6ZUT3 |
PRIDEi | Q6ZUT3 |
ProteomicsDBi | 68358 [Q6ZUT3-1] 68359 [Q6ZUT3-2] |
Protocols and materials databases
Antibodypediai | 430, 102 antibodies |
Genome annotation databases
Ensembli | ENST00000298542; ENSP00000298542; ENSG00000165694 [Q6ZUT3-1] ENST00000464296; ENSP00000417996; ENSG00000165694 [Q6ZUT3-2] |
GeneIDi | 90167 |
KEGGi | hsa:90167 |
UCSCi | uc004ewn.4, human [Q6ZUT3-1] |
Organism-specific databases
CTDi | 90167 |
DisGeNETi | 90167 |
GeneCardsi | FRMD7 |
GeneReviewsi | FRMD7 |
HGNCi | HGNC:8079, FRMD7 |
HPAi | ENSG00000165694, Group enriched (endometrium, kidney, smooth muscle) |
MalaCardsi | FRMD7 |
MIMi | 300628, gene 310700, phenotype |
neXtProti | NX_Q6ZUT3 |
OpenTargetsi | ENSG00000165694 |
Orphaneti | 651, NON RARE IN EUROPE: Idiopathic infantile nystagmus |
PharmGKBi | PA162388934 |
VEuPathDBi | HostDB:ENSG00000165694.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3531, Eukaryota |
GeneTreei | ENSGT00940000158972 |
HOGENOMi | CLU_030239_0_0_1 |
InParanoidi | Q6ZUT3 |
OMAi | DIMPPQV |
OrthoDBi | 476668at2759 |
PhylomeDBi | Q6ZUT3 |
TreeFami | TF317513 |
Enzyme and pathway databases
PathwayCommonsi | Q6ZUT3 |
Miscellaneous databases
BioGRID-ORCSi | 90167, 4 hits in 500 CRISPR screens |
ChiTaRSi | FRMD7, human |
GeneWikii | FRMD7 |
GenomeRNAii | 90167 |
Pharosi | Q6ZUT3, Tbio |
PROi | PR:Q6ZUT3 |
RNActi | Q6ZUT3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000165694, Expressed in calcaneal tendon and 42 other tissues |
ExpressionAtlasi | Q6ZUT3, baseline and differential |
Genevisiblei | Q6ZUT3, HS |
Family and domain databases
CDDi | cd14473, FERM_B-lobe, 1 hit cd13193, FERM_C_FARP1-like, 1 hit |
Gene3Di | 1.20.80.10, 1 hit 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR019749, Band_41_domain IPR041788, FARP1/FARP2/FRMD7_FERM_C IPR014847, FERM-adjacent IPR014352, FERM/acyl-CoA-bd_prot_sf IPR035963, FERM_2 IPR019748, FERM_central IPR019747, FERM_CS IPR000299, FERM_domain IPR018979, FERM_N IPR018980, FERM_PH-like_C IPR011993, PH-like_dom_sf IPR029071, Ubiquitin-like_domsf |
Pfami | View protein in Pfam PF08736, FA, 1 hit PF09380, FERM_C, 1 hit PF00373, FERM_M, 1 hit PF09379, FERM_N, 1 hit |
PRINTSi | PR00935, BAND41 |
SMARTi | View protein in SMART SM00295, B41, 1 hit SM01195, FA, 1 hit SM01196, FERM_C, 1 hit |
SUPFAMi | SSF47031, SSF47031, 1 hit SSF54236, SSF54236, 1 hit |
PROSITEi | View protein in PROSITE PS00660, FERM_1, 1 hit PS50057, FERM_3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | FRMD7_HUMAN | |
Accessioni | Q6ZUT3Primary (citable) accession number: Q6ZUT3 Secondary accession number(s): C0LLJ3, Q5JX99 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 31, 2006 |
Last sequence update: | July 5, 2004 | |
Last modified: | February 10, 2021 | |
This is version 147 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot