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57674 RNF213

57674

RNF213

ring finger protein 213

protein-coding

Homo sapiens

基因描述

Type Description
Definition ring finger protein 213

研究结论

Date Results Publications
2021-04-17 13:12:00 Observation of p.R4810K, a Polymorphism of the Mysterin Gene, the Susceptibility Gene for Moyamoya Disease, in Two Female Japanese Diabetic Patients with Familial Partial Lipodystrophy 1. 33055470
2021-04-03 13:28:00 Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension. 31542298
2021-03-20 13:32:00 Prospective Screening of Extracranial Systemic Arteriopathy in Young Adults with Moyamoya Disease. 32954918
2021-02-13 13:27:00 Ethnic variation and the relevance of homozygous RNF 213 p.R4810.K variant in the phenotype of Indian Moya moya disease. 33370357
2021-02-06 13:52:00 Moyamoya vasculopathy shows a genetic mutational gradient decreasing from East to West. 27787485

名称对应

Type IDs
Synonymous ALO17, C17orf27, KIAA1618, MYMY2, MYSTR, NET57
Gene
UniProtKB-ID: RN213_HUMAN, A0A0A0MTR7_HUMAN, A0A0A0MTC1_HUMAN
UniprotKB: Q63HN8, A0A0A0MTR7, A0A0A0MTC1
UniParc: UPI0001D3BDB1, UPI00043788D6, UPI0000375209, UPI0003EAEE91, UPI00001AF288, UPI0001BB0BFA
EMBL: AL832920, AB537889, AK026038, AC124319, KF510430, AK025914, AL833201, AB046838, AF397204, BX647946, AF397205, BC036891, AK025676, BC032220, BC040341, KC877677, BX640932, AK023871, AB046774, AK074030, AC123764
Ensembl: ENSG00000173821
KO: hsa:57674
Nucleutide sequences
EMBL-CDS: BAB13380.1, CAH56308.1, BAB14708.1, CAH56189.1, CAE45967.1, BAB84856.1, AAH32220.1, AAN63521.1, BAK53191.1, BAB15212.1, CAH10615.1, BAB15280.1, BAB15330.1, BAB13444.1, AAH36891.1, AAN63520.1, AAH40341.1
Ensembl_TRS: ENST00000319921, ENST00000582970, ENST00000508628
Protein sequencees
Ensembl_PRO: ENSP00000324392, ENSP00000464087, ENSP00000425956
RefSeq: NP_001243000.2, XP_005257603.2, XP_011523389.1, XP_011523386.1, XP_005257602.2, XP_011523388.1, NP_066005.2, XP_006722058.1, XP_016880394.1
Others
UniRef100: UniRef100_Q63HN8, UniRef100_A0A0A0MTR7, UniRef100_A0A0A0MTC1
UniRef90: UniRef90_Q63HN8
UniRef50: UniRef50_Q63HN8
UniGene: Hs.195642, Hs.740662, Hs.745415
CCDS: CCDS58606.1, CCDS11772.1

全选

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