keyword:KW-0225 in UniProtKB

1 - 25 of 1,722 results for keyword:"Disease mutation [KW-0225]" in UniProtKB

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Accession	Entry name	Protein names	Gene names	Organism	Length
P26439	3BHS2_HUMAN	3 beta-hydroxysteroid dehydrogenase/Delta 5--... 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2 (3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II) (3-beta-HSD II) [Includes: 3-beta-hydroxy-Delta(5)-steroid dehydrogenase (EC 1.1.1.145) (3-beta-hydroxy-5-ene steroid dehydrogenase) (Progesterone reductase); Steroid Delta-isomerase (EC 5.3.3.1) (Delta-5-3-ketosteroid isomerase)]	HSD3B2 (HSDB3B)	Homo sapiens (Human)	372
Q9H2F3	3BHS7_HUMAN	3 beta-hydroxysteroid dehydrogenase type 7 3 beta-hydroxysteroid dehydrogenase type 7 (3 beta-hydroxysteroid dehydrogenase type VII) (3-beta-HSD VII) (3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase) (C(27) 3-beta-HSD) (EC 1.1.1.-) (Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase) (EC 1.1.1.181)	HSD3B7	Homo sapiens (Human)	369
P78314	3BP2_HUMAN	SH3 domain-binding protein 2 SH3 domain-binding protein 2 (3BP-2)	SH3BP2 (3BP2) (RES4-23)	Homo sapiens (Human)	561
Q9H0P0	5NT3_HUMAN	Cytosolic 5'-nucleotidase 3 Cytosolic 5'-nucleotidase 3 (EC 3.1.3.5) (Cytosolic 5'-nucleotidase III) (cN-III) (Pyrimidine 5'-nucleotidase 1) (P5'N-1) (P5N-1) (PN-I) (Uridine 5'-monophosphate hydrolase 1) (p36)	NT5C3 (P5N1) (UMPH1) (HSPC233)	Homo sapiens (Human)	336
P01009	A1AT_HUMAN	Alpha-1-antitrypsin Alpha-1-antitrypsin (Alpha-1 protease inhibitor) (Alpha-1-antiproteinase) [Cleaved into: Short peptide from AAT (SPAAT)]	SERPINA1 (AAT) (PI) (PRO0684) (PRO2209)	Homo sapiens (Human)	418
P08697	A2AP_HUMAN	Alpha-2-antiplasmin Alpha-2-antiplasmin (Alpha-2-AP) (Alpha-2-plasmin inhibitor) (Alpha-2-PI)	SERPINF2 (AAP) (PLI)	Homo sapiens (Human)	491
P05067	A4_HUMAN	Amyloid beta A4 protein Amyloid beta A4 protein (Alzheimer disease amyloid protein) (ABPP) (APPI) (APP) (PreA4) (Cerebral vascular amyloid peptide) (CVAP) (Protease nexin-II) (PN-II) [Cleaved into: N-APP; Soluble APP-alpha (S-APP-alpha); Soluble APP-beta (S-APP-beta); C99; Beta-amyloid protein 42 (Beta-APP42); Beta-amyloid protein 40 (Beta-APP40); C83; P3(42); P3(40); C80; Gamma-secretase C-terminal fragment 59 (Gamma-CTF(59)) (Amyloid intracellular domain 59) (AICD-59) (AID(59)); Gamma-secretase C-terminal fragment 57 (Gamma-CTF(57)) (Amyloid intracellular domain 57) (AICD-57) (AID(57)); Gamma-secretase C-terminal fragment 50 (Gamma-CTF(50)) (Amyloid intracellular domain 50) (AICD-50) (AID(50)); C31]	APP (A4) (AD1)	Homo sapiens (Human)	770
Q9NS82	AAA1_HUMAN	Asc-type amino acid transporter 1 Asc-type amino acid transporter 1 (Asc-1) (Solute carrier family 7 member 10)	SLC7A10 (ASC1)	Homo sapiens (Human)	523
Q9NRG9	AAAS_HUMAN	Aladin Aladin (Adracalin)	AAAS (ADRACALA) (GL003)	Homo sapiens (Human)	546
P01011	AACT_HUMAN	Alpha-1-antichymotrypsin Alpha-1-antichymotrypsin (ACT) (Cell growth-inhibiting gene 24/25 protein) [Cleaved into: Alpha-1-antichymotrypsin His-Pro-less]	SERPINA3 (AACT) (GIG24) (GIG25)	Homo sapiens (Human)	423
Q9UGJ0	AAKG2_HUMAN	5'-AMP-activated protein kinase subunit gamma... 5'-AMP-activated protein kinase subunit gamma-2 (AMPK gamma-2 chain) (AMPK gamma2) (H91620p)	PRKAG2	Homo sapiens (Human)	569
Q9MYP4	AAKG3_PIG	5'-AMP-activated protein kinase subunit gamma... 5'-AMP-activated protein kinase subunit gamma-3 (AMPK gamma-3 chain) (AMPK gamma3)	PRKAG3	Sus scrofa (Pig)	514
O95477	ABCA1_HUMAN	ATP-binding cassette sub-family A member 1 ATP-binding cassette sub-family A member 1 (ATP-binding cassette transporter 1) (ATP-binding cassette 1) (ABC-1) (Cholesterol efflux regulatory protein)	ABCA1 (ABC1) (CERP)	Homo sapiens (Human)	2,261
Q99758	ABCA3_HUMAN	ATP-binding cassette sub-family A member 3 ATP-binding cassette sub-family A member 3 (ATP-binding cassette transporter 3) (ATP-binding cassette 3) (ABC-C transporter)	ABCA3 (ABC3)	Homo sapiens (Human)	1,704
P78363	ABCA4_HUMAN	Retinal-specific ATP-binding cassette transpo... Retinal-specific ATP-binding cassette transporter (ATP-binding cassette sub-family A member 4) (RIM ABC transporter) (RIM protein) (RmP) (Stargardt disease protein)	ABCA4 (ABCR)	Homo sapiens (Human)	2,273
Q86UK0	ABCAC_HUMAN	ATP-binding cassette sub-family A member 12 ATP-binding cassette sub-family A member 12 (ATP-binding cassette transporter 12) (ATP-binding cassette 12)	ABCA12 (ABC12)	Homo sapiens (Human)	2,595
O75027	ABCB7_HUMAN	ATP-binding cassette sub-family B member 7, m... ATP-binding cassette sub-family B member 7, mitochondrial (ATP-binding cassette transporter 7) (ABC transporter 7 protein)	ABCB7 (ABC7)	Homo sapiens (Human)	752
O95342	ABCBB_HUMAN	Bile salt export pump Bile salt export pump (ATP-binding cassette sub-family B member 11)	ABCB11 (BSEP)	Homo sapiens (Human)	1,321
Q09428	ABCC8_HUMAN	ATP-binding cassette transporter sub-family C... ATP-binding cassette transporter sub-family C member 8 (Sulfonylurea receptor 1)	ABCC8 (HRINS) (SUR) (SUR1)	Homo sapiens (Human)	1,581
O60706	ABCC9_HUMAN	ATP-binding cassette transporter sub-family C... ATP-binding cassette transporter sub-family C member 9 (Sulfonylurea receptor 2)	ABCC9 (SUR2)	Homo sapiens (Human)	1,549
P33897	ABCD1_HUMAN	ATP-binding cassette sub-family D member 1 ATP-binding cassette sub-family D member 1 (Adrenoleukodystrophy protein) (ALDP)	ABCD1 (ALD)	Homo sapiens (Human)	745
P28288	ABCD3_HUMAN	ATP-binding cassette sub-family D member 3 ATP-binding cassette sub-family D member 3 (70 kDa peroxisomal membrane protein) (PMP70)	ABCD3 (PMP70) (PXMP1)	Homo sapiens (Human)	659
Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5 ATP-binding cassette sub-family G member 5 (Sterolin-1)	ABCG5	Homo sapiens (Human)	651
Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8 ATP-binding cassette sub-family G member 8 (Sterolin-2)	ABCG8	Homo sapiens (Human)	673
Q8WTS1	ABHD5_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase ... 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 (EC 2.3.1.51) (Abhydrolase domain-containing protein 5) (Lipid droplet-binding protein CGI-58)	ABHD5 (NCIE2) (CGI-58)	Homo sapiens (Human)	349

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