UniProtKB - Q6VAB6 (KSR2_HUMAN)
Kinase suppressor of Ras 2
KSR2
Functioni
Location-regulated scaffold connecting MEK to RAF. Has very low protein kinase activity and can phosphorylate MAP2K1 at several Ser and Thr residues with very low efficiency (in vitro). Acts as MAP2K1/MEK1-dependent allosteric activator of BRAF; upon binding to MAP2K1/MEK1, dimerizes with BRAF and promotes BRAF-mediated phosphorylation of MAP2K1/MEK1 (PubMed:29433126).
Interaction with BRAF enhances KSR2-mediated phosphorylation of MAP2K1 (in vitro). Blocks MAP3K8 kinase activity and MAP3K8-mediated signaling. Acts as a negative regulator of MAP3K3-mediated activation of ERK, JNK and NF-kappa-B pathways, inhibiting MAP3K3-mediated interleukin-8 production.
4 PublicationsCaution
Catalytic activityi
Activity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 413 | Zinc 1By similarity | 1 | |
Metal bindingi | 425 | Zinc 2By similarity | 1 | |
Metal bindingi | 428 | Zinc 2By similarity | 1 | |
Metal bindingi | 438 | Zinc 1By similarity | 1 | |
Metal bindingi | 441 | Zinc 1By similarity | 1 | |
Metal bindingi | 446 | Zinc 2By similarity | 1 | |
Metal bindingi | 449 | Zinc 2By similarity | 1 | |
Metal bindingi | 456 | Zinc 1By similarity | 1 | |
Active sitei | 786 | Proton donor/acceptor1 Publication | 1 | |
Binding sitei | 788 | ATP1 Publication | 1 | |
Binding sitei | 803 | ATP1 Publication | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 412 – 456 | Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST | 45 | |
Nucleotide bindingi | 672 – 680 | ATPPROSITE-ProRule annotation1 Publication | 9 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- metal ion binding Source: UniProtKB-KW
- protein kinase activity Source: GO_Central
- protein serine/threonine/tyrosine kinase activity Source: RHEA
- protein serine/threonine kinase activity Source: UniProtKB-KW
- protein serine kinase activity Source: RHEA
GO - Biological processi
- calcium-mediated signaling Source: GO_Central
- positive regulation of cold-induced thermogenesis Source: YuBioLab
- Ras protein signal transduction Source: GO_Central
- signal transduction Source: GO_Central
Keywordsi
Molecular function | Kinase, Serine/threonine-protein kinase, Transferase |
Ligand | ATP-binding, Metal-binding, Nucleotide-binding, Zinc |
Enzyme and pathway databases
BRENDAi | 2.7.11.25, 2681 |
PathwayCommonsi | Q6VAB6 |
Reactomei | R-HSA-5674135, MAP2K and MAPK activation R-HSA-6802946, Signaling by moderate kinase activity BRAF mutants R-HSA-6802948, Signaling by high-kinase activity BRAF mutants R-HSA-6802952, Signaling by BRAF and RAF1 fusions R-HSA-6802955, Paradoxical activation of RAF signaling by kinase inactive BRAF R-HSA-9649948, Signaling downstream of RAS mutants R-HSA-9656223, Signaling by RAF1 mutants |
SignaLinki | Q6VAB6 |
SIGNORi | Q6VAB6 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:KSR2 |
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:18610, KSR2 |
MIMi | 610737, gene |
neXtProti | NX_Q6VAB6 |
VEuPathDBi | HostDB:ENSG00000171435 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm By similarity
Other locations
- Membrane By similarity; Peripheral membrane protein By similarity
Cytosol
- cytosol Source: GO_Central
Plasma Membrane
- plasma membrane Source: GO_Central
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
Cytoplasm, MembranePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 718 | R → H: Impairs formation of heterotetramers with MAP2K1, but not the formation of heterodimers. 1 Publication | 1 | |
Mutagenesisi | 786 | D → A: Loss of kinase activity. 1 Publication | 1 | |
Mutagenesisi | 879 | A → L: Impairs MAP2K1 binding. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 283455 |
OpenTargetsi | ENSG00000171435 |
Orphaneti | 521399, NON RARE IN EUROPE: Non rare obesity |
PharmGKBi | PA134914125 |
Miscellaneous databases
Pharosi | Q6VAB6, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3627583 |
Genetic variation databases
BioMutai | KSR2 |
DMDMi | 148886599 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000086231 | 1 – 950 | Kinase suppressor of Ras 2Add BLAST | 950 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 272 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 276 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 474 | Phosphoserine; by MARK3By similarity | 1 | |
Modified residuei | 497 | PhosphothreonineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
jPOSTi | Q6VAB6 |
MassIVEi | Q6VAB6 |
MaxQBi | Q6VAB6 |
PaxDbi | Q6VAB6 |
PeptideAtlasi | Q6VAB6 |
PRIDEi | Q6VAB6 |
ProteomicsDBi | 67721 [Q6VAB6-1] 67722 [Q6VAB6-2] |
PTM databases
iPTMneti | Q6VAB6 |
PhosphoSitePlusi | Q6VAB6 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000171435, Expressed in Brodmann (1909) area 23 and 100 other tissues |
ExpressionAtlasi | Q6VAB6, baseline and differential |
Genevisiblei | Q6VAB6, HS |
Organism-specific databases
HPAi | ENSG00000171435, Group enriched (brain, pituitary gland) |
Interactioni
Subunit structurei
Heterodimerizes (via N-terminus) with BRAF (via N-terminus) in a MAP2K1/MEK1-dependent manner (PubMed:29433126).
Interacts with BRAF; this increases the low intrinsic protein kinase activity of KSR2 (PubMed:21441910).
Interacts with MAP2K1, forming a heterodimer that can dimerize to form a heterotetramer (PubMed:29433126, PubMed:21441910, PubMed:12975377).
Interacts with MAP3K8, MAPK, RAS and RAF (PubMed:12975377).
3 PublicationsBinary interactionsi
Q6VAB6
With | #Exp. | IntAct |
---|---|---|
CDC37 [Q16543] | 7 | EBI-6424389,EBI-295634 |
CYSRT1 [A8MQ03] | 3 | EBI-6424389,EBI-3867333 |
FKBP5 [Q13451] | 7 | EBI-6424389,EBI-306914 |
HSP90AA1 [P07900] | 6 | EBI-6424389,EBI-296047 |
Isoform 1 [Q6VAB6-1]
With | #Exp. | IntAct |
---|---|---|
MAP2K1 [P29678] from Oryctolagus cuniculus. | 6 | EBI-15916808,EBI-1631983 |
Protein-protein interaction databases
BioGRIDi | 129567, 18 interactors |
DIPi | DIP-59195N |
IntActi | Q6VAB6, 141 interactors |
MINTi | Q6VAB6 |
STRINGi | 9606.ENSP00000389715 |
Chemistry databases
BindingDBi | Q6VAB6 |
Miscellaneous databases
RNActi | Q6VAB6, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q6VAB6 |
SMRi | Q6VAB6 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 666 – 931 | Protein kinasePROSITE-ProRule annotationAdd BLAST | 266 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 239 – 296 | DisorderedSequence analysisAdd BLAST | 58 | |
Regioni | 498 – 556 | DisorderedSequence analysisAdd BLAST | 59 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 280 – 294 | Pro residuesSequence analysisAdd BLAST | 15 | |
Compositional biasi | 512 – 527 | Polar residuesSequence analysisAdd BLAST | 16 | |
Compositional biasi | 528 – 549 | Pro residuesSequence analysisAdd BLAST | 22 |
Domaini
Sequence similaritiesi
Zinc finger
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Zinc fingeri | 412 – 456 | Phorbol-ester/DAG-typePROSITE-ProRule annotationAdd BLAST | 45 |
Keywords - Domaini
Zinc-fingerPhylogenomic databases
eggNOGi | KOG0193, Eukaryota |
GeneTreei | ENSGT00940000158519 |
HOGENOMi | CLU_006812_1_0_1 |
InParanoidi | Q6VAB6 |
OMAi | QWHWDSW |
OrthoDBi | 281487at2759 |
PhylomeDBi | Q6VAB6 |
TreeFami | TF317006 |
Family and domain databases
CDDi | cd00029, C1, 1 hit |
Gene3Di | 1.10.150.50, 1 hit |
InterProi | View protein in InterPro IPR046349, C1-like_sf IPR011009, Kinase-like_dom_sf IPR025561, KSR_SAM-like_dom IPR002219, PE/DAG-bd IPR000719, Prot_kinase_dom IPR013761, SAM/pointed_sf IPR001245, Ser-Thr/Tyr_kinase_cat_dom IPR008271, Ser/Thr_kinase_AS |
Pfami | View protein in Pfam PF07714, PK_Tyr_Ser-Thr, 1 hit PF13543, SAM_KSR1, 1 hit |
SMARTi | View protein in SMART SM00109, C1, 1 hit SM00220, S_TKc, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit SSF57889, SSF57889, 1 hit |
PROSITEi | View protein in PROSITE PS50011, PROTEIN_KINASE_DOM, 1 hit PS00108, PROTEIN_KINASE_ST, 1 hit PS00479, ZF_DAG_PE_1, 1 hit PS50081, ZF_DAG_PE_2, 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
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
MDEENMTKSE EQQPLSLQKA LQQCELVQNM IDLSISNLEG LRTKCATSND
60 70 80 90 100
LTQKEIRTLE SKLVKYFSRQ LSCKKKVALQ ERNAELDGFP QLRHWFRIVD
110 120 130 140 150
VRKEVLEEIS PGQLSLEDLL EMTDEQVCET VEKYGANREE CARLNASLSC
160 170 180 190 200
LRNVHMSGGN LSKQDWTIQW PTTETGKENN PVCPPEPTPW IRTHLSQSPR
210 220 230 240 250
VPSKCVQHYC HTSPTPGAPV YTHVDRLTVD AYPGLCPPPP LESGHRSLPP
260 270 280 290 300
SPRQRHAVRT PPRTPNIVTT VTPPGTPPMR KKNKLKPPGT PPPSSRKLIH
310 320 330 340 350
LIPGFTALHR SKSHEFQLGH RVDEAHTPKA KKKSKPLNLK IHSSVGSCEN
360 370 380 390 400
IPSQQRSPLL SERSLRSFFV GHAPFLPSTP PVHTEANFSA NTLSVPRWSP
410 420 430 440 450
QIPRRDLGNS IKHRFSTKYW MSQTCTVCGK GMLFGLKCKN CKLKCHNKCT
460 470 480 490 500
KEAPPCHLLI IHRGDPARLV RTESVPCDIN NPLRKPPRYS DLHISQTLPK
510 520 530 540 550
TNKINKDHIP VPYQPDSSSN PSSTTSSTPS SPAPPLPPSA TPPSPLHPSP
560 570 580 590 600
QCTRQQKNFN LPASHYYKYK QQFIFPDVVP VPETPTRAPQ VILHPVTSNP
610 620 630 640 650
ILEGNPLLQI EVEPTSENEE VHDEAEESED DFEEMNLSLL SARSFPRKAS
660 670 680 690 700
QTSIFLQEWD IPFEQLEIGE LIGKGRFGQV YHGRWHGEVA IRLIDIERDN
710 720 730 740 750
EDQLKAFKRE VMAYRQTRHE NVVLFMGACM SPPHLAIITS LCKGRTLYSV
760 770 780 790 800
VRDAKIVLDV NKTRQIAQEI VKGMGYLHAK GILHKDLKSK NVFYDNGKVV
810 820 830 840 850
ITDFGLFSIS GVLQAGRRED KLRIQNGWLC HLAPEIIRQL SPDTEEDKLP
860 870 880 890 900
FSKHSDVFAL GTIWYELHAR EWPFKTQPAE AIIWQMGTGM KPNLSQIGMG
910 920 930 940 950
KEISDILLFC WAFEQEERPT FTKLMDMLEK LPKRNRRLSH PGHFWKSAEL
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE9PB13 | E9PB13_HUMAN | Non-specific serine/threonine prote... | KSR2 | 921 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_040659 | 676 | R → S in a lung adenocarcinoma sample; somatic mutation. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_012234 | 1 – 303 | Missing in isoform 2. 1 PublicationAdd BLAST | 303 | |
Alternative sequenceiVSP_012235 | 304 – 329 | GFTAL…AHTPK → MYNKKAKMEPNASESAIPAR RQRQPR in isoform 2. 1 PublicationAdd BLAST | 26 | |
Alternative sequenceiVSP_012236 | 740 – 742 | SLC → RPV in isoform 2. 1 Publication | 3 | |
Alternative sequenceiVSP_012237 | 743 – 950 | Missing in isoform 2. 1 PublicationAdd BLAST | 208 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK098831 mRNA Translation: BAC05426.1 AC073864 Genomic DNA No translation available. AC079127 Genomic DNA No translation available. AC084291 Genomic DNA No translation available. AC092936 Genomic DNA No translation available. AY345972 mRNA Translation: AAQ24226.1 BC107106 mRNA Translation: AAI07107.1 BC107107 mRNA Translation: AAI07108.1 BC127603 mRNA Translation: AAI27604.1 |
CCDSi | CCDS61250.1 [Q6VAB6-1] |
RefSeqi | NP_775869.3, NM_173598.4 [Q6VAB6-1] XP_011536527.1, XM_011538225.2 |
Genome annotation databases
Ensembli | ENST00000339824.7; ENSP00000339952.4; ENSG00000171435.14 |
GeneIDi | 283455 |
KEGGi | hsa:283455 |
MANE-Selecti | ENST00000339824.7; ENSP00000339952.4; NM_173598.6; NP_775869.4 |
UCSCi | uc058tua.1, human [Q6VAB6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK098831 mRNA Translation: BAC05426.1 AC073864 Genomic DNA No translation available. AC079127 Genomic DNA No translation available. AC084291 Genomic DNA No translation available. AC092936 Genomic DNA No translation available. AY345972 mRNA Translation: AAQ24226.1 BC107106 mRNA Translation: AAI07107.1 BC107107 mRNA Translation: AAI07108.1 BC127603 mRNA Translation: AAI27604.1 |
CCDSi | CCDS61250.1 [Q6VAB6-1] |
RefSeqi | NP_775869.3, NM_173598.4 [Q6VAB6-1] XP_011536527.1, XM_011538225.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2Y4I | X-ray | 3.46 | B | 634-950 | [»] | |
5KKR | X-ray | 3.51 | B | 634-950 | [»] | |
7JUQ | X-ray | 3.22 | B | 634-950 | [»] | |
7JUR | X-ray | 2.82 | B | 634-950 | [»] | |
7JUS | X-ray | 2.99 | B | 634-950 | [»] | |
7JUT | X-ray | 3.09 | B | 634-950 | [»] | |
7JUU | X-ray | 3.19 | B | 634-950 | [»] | |
7JUV | X-ray | 3.36 | B | 634-950 | [»] | |
AlphaFoldDBi | Q6VAB6 | |||||
SMRi | Q6VAB6 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 129567, 18 interactors |
DIPi | DIP-59195N |
IntActi | Q6VAB6, 141 interactors |
MINTi | Q6VAB6 |
STRINGi | 9606.ENSP00000389715 |
Chemistry databases
BindingDBi | Q6VAB6 |
ChEMBLi | CHEMBL3627583 |
PTM databases
iPTMneti | Q6VAB6 |
PhosphoSitePlusi | Q6VAB6 |
Genetic variation databases
BioMutai | KSR2 |
DMDMi | 148886599 |
Proteomic databases
jPOSTi | Q6VAB6 |
MassIVEi | Q6VAB6 |
MaxQBi | Q6VAB6 |
PaxDbi | Q6VAB6 |
PeptideAtlasi | Q6VAB6 |
PRIDEi | Q6VAB6 |
ProteomicsDBi | 67721 [Q6VAB6-1] 67722 [Q6VAB6-2] |
Protocols and materials databases
Antibodypediai | 31354, 361 antibodies from 27 providers |
DNASUi | 283455 |
Genome annotation databases
Ensembli | ENST00000339824.7; ENSP00000339952.4; ENSG00000171435.14 |
GeneIDi | 283455 |
KEGGi | hsa:283455 |
MANE-Selecti | ENST00000339824.7; ENSP00000339952.4; NM_173598.6; NP_775869.4 |
UCSCi | uc058tua.1, human [Q6VAB6-1] |
Organism-specific databases
CTDi | 283455 |
DisGeNETi | 283455 |
GeneCardsi | KSR2 |
HGNCi | HGNC:18610, KSR2 |
HPAi | ENSG00000171435, Group enriched (brain, pituitary gland) |
MIMi | 610737, gene |
neXtProti | NX_Q6VAB6 |
OpenTargetsi | ENSG00000171435 |
Orphaneti | 521399, NON RARE IN EUROPE: Non rare obesity |
PharmGKBi | PA134914125 |
VEuPathDBi | HostDB:ENSG00000171435 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0193, Eukaryota |
GeneTreei | ENSGT00940000158519 |
HOGENOMi | CLU_006812_1_0_1 |
InParanoidi | Q6VAB6 |
OMAi | QWHWDSW |
OrthoDBi | 281487at2759 |
PhylomeDBi | Q6VAB6 |
TreeFami | TF317006 |
Enzyme and pathway databases
BRENDAi | 2.7.11.25, 2681 |
PathwayCommonsi | Q6VAB6 |
Reactomei | R-HSA-5674135, MAP2K and MAPK activation R-HSA-6802946, Signaling by moderate kinase activity BRAF mutants R-HSA-6802948, Signaling by high-kinase activity BRAF mutants R-HSA-6802952, Signaling by BRAF and RAF1 fusions R-HSA-6802955, Paradoxical activation of RAF signaling by kinase inactive BRAF R-HSA-9649948, Signaling downstream of RAS mutants R-HSA-9656223, Signaling by RAF1 mutants |
SignaLinki | Q6VAB6 |
SIGNORi | Q6VAB6 |
Miscellaneous databases
BioGRID-ORCSi | 283455, 11 hits in 1086 CRISPR screens |
ChiTaRSi | KSR2, human |
GenomeRNAii | 283455 |
Pharosi | Q6VAB6, Tbio |
PROi | PR:Q6VAB6 |
RNActi | Q6VAB6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000171435, Expressed in Brodmann (1909) area 23 and 100 other tissues |
ExpressionAtlasi | Q6VAB6, baseline and differential |
Genevisiblei | Q6VAB6, HS |
Family and domain databases
CDDi | cd00029, C1, 1 hit |
Gene3Di | 1.10.150.50, 1 hit |
InterProi | View protein in InterPro IPR046349, C1-like_sf IPR011009, Kinase-like_dom_sf IPR025561, KSR_SAM-like_dom IPR002219, PE/DAG-bd IPR000719, Prot_kinase_dom IPR013761, SAM/pointed_sf IPR001245, Ser-Thr/Tyr_kinase_cat_dom IPR008271, Ser/Thr_kinase_AS |
Pfami | View protein in Pfam PF07714, PK_Tyr_Ser-Thr, 1 hit PF13543, SAM_KSR1, 1 hit |
SMARTi | View protein in SMART SM00109, C1, 1 hit SM00220, S_TKc, 1 hit |
SUPFAMi | SSF56112, SSF56112, 1 hit SSF57889, SSF57889, 1 hit |
PROSITEi | View protein in PROSITE PS50011, PROTEIN_KINASE_DOM, 1 hit PS00108, PROTEIN_KINASE_ST, 1 hit PS00479, ZF_DAG_PE_1, 1 hit PS50081, ZF_DAG_PE_2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | KSR2_HUMAN | |
Accessioni | Q6VAB6Primary (citable) accession number: Q6VAB6 Secondary accession number(s): A0PJT2, Q3B828, Q8N775 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 21, 2004 |
Last sequence update: | May 29, 2007 | |
Last modified: | May 25, 2022 | |
This is version 150 of the entry and version 2 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
3D-structure, Reference proteomeDocuments
- Human and mouse protein kinases
Human and mouse protein kinases: classification and index - Human chromosome 12
Human chromosome 12: 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 - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families