keyword:225 in UniProtKB

1 - 25 of 2,101 results for keyword:"Disease mutation [225]" in UniProtKB

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Entry	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) (3-beta-HSD adrenal and gonadal type) [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
P21589	5NTD_HUMAN	5'-nucleotidase 5'-nucleotidase (5'-NT) (EC 3.1.3.5) (Ecto-5'-nucleotidase) (CD antigen CD73)	NT5E NT5 NTE	Homo sapiens (Human)	574
P08697	A2AP_HUMAN	Alpha-2-antiplasmin Alpha-2-antiplasmin (Alpha-2-AP) (Alpha-2-plasmin inhibitor) (Alpha-2-PI) (Serpin F2)	SERPINF2 AAP PLI	Homo sapiens (Human)	491
P05067	A4_HUMAN	Amyloid beta A4 protein Amyloid beta A4 protein (ABPP) (APPI) (APP) (Alzheimer disease amyloid protein) (Cerebral vascular amyloid peptide) (CVAP) (PreA4) (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 (Amyloid intracellular domain 59) (AICD-59) (AID(59)) (Gamma-CTF(59)); Gamma-secretase C-terminal fragment 57 (Amyloid intracellular domain 57) (AICD-57) (AID(57)) (Gamma-CTF(57)); Gamma-secretase C-terminal fragment 50 (Amyloid intracellular domain 50) (AICD-50) (AID(50)) (Gamma-CTF(50)); C31]	APP A4 AD1	Homo sapiens (Human)	770
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) (Serpin A3) [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 gamma2) (AMPK subunit gamma-2) (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 gamma3) (AMPK subunit gamma-3)	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) (ABC-1) (ATP-binding cassette 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 (ABC-C transporter) (ATP-binding cassette transporter 3) (ATP-binding cassette 3)	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
Q9NP58	ABCB6_HUMAN	ATP-binding cassette sub-family B member 6, m... ATP-binding cassette sub-family B member 6, mitochondrial (Mitochondrial ABC transporter 3) (Mt-ABC transporter 3) (P-glycoprotein-related protein) (Ubiquitously-expressed mammalian ABC half transporter)	ABCB6 MTABC3 PRP UMAT	Homo sapiens (Human)	842
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 sub-family C member 8 ATP-binding cassette sub-family C member 8 (Sulfonylurea receptor 1)	ABCC8 HRINS SUR SUR1	Homo sapiens (Human)	1,581
O60706	ABCC9_HUMAN	ATP-binding cassette sub-family C member 9 ATP-binding cassette 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
O14678	ABCD4_HUMAN	ATP-binding cassette sub-family D member 4 ATP-binding cassette sub-family D member 4 (PMP70-related protein) (P70R) (Peroxisomal membrane protein 1-like) (PXMP1-L) (Peroxisomal membrane protein 69) (PMP69)	ABCD4 PXMP1L	Homo sapiens (Human)	606
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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