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462 SERPINC1

462

SERPINC1

serpin family C member 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition serpin family C member 1

研究结论

Date Results Publications
2021-03-20 13:28:00 Genotype-phenotype gradient of SERPINC1 variants in a single family reveals a severe compound antithrombin deficiency in a dead embryo. 32686144
2021-02-20 13:30:00 Understanding the andromeda strain - The role of cytokine release, coagulopathy and antithrombin III in SARS-CoV2 critical illness. 32829961
2021-02-06 13:58:00 Novel SERPINC1 missense mutation (Cys462Tyr) causes disruption of the 279Cys-462Cys disulfide bond and leads to type hereditary antithrombin deficiency. 32745482
2020-12-12 13:25:00 A novel SERPINC1 frameshift mutation in two antithrombin deficiency families. 31441586
2020-11-28 13:14:00 Role of Both Protein C and Antithrombin III as Predictors of Stage of Liver Disease in Chronic Viral Hepatitis B or C Infected Patients. 31142255

名称对应

Type IDs
Synonymous AT3, AT3D, ATIII, ATIII-R2, ATIII-T1, ATIII-T2, THPH7
Gene
UniProtKB-ID: ANT3_HUMAN, A0A024R944_HUMAN
UniprotKB: P01008, A0A024R944
UniParc: UPI000002C0C1
EMBL: M21636, AF386078, X68793, M21643, D29832, M21640, AK312654, M21637, L00190, M21644, M21642, CH471067, M21641, AL136170, L00185, M21638, AF130100, L00186
Ensembl: ENSG00000117601
KO: hsa:462
Nucleutide sequences
EMBL-CDS: BAA06212.1, AAA51793.1, EAW90969.1, AAK60337.1, AAA51796.1, CAA48690.1, BAG35537.1, AAG35525.1, AAA51794.1, AAB40025.1, EAW90970.1
Gene_ORFName: PRO0309, hCG_23693
Ensembl_TRS: ENST00000367698
Protein sequencees
Ensembl_PRO: ENSP00000356671
RefSeq: NP_001373231.1, NP_001373232.1, NP_000479.1, NP_001373235.1, NP_001373234.1, NP_001351981.1, NP_001373233.1
Others
UniRef100: UniRef100_P01008
UniRef90: UniRef90_P01008
UniRef50: UniRef50_P01008
UniGene: Hs.75599
CCDS: CCDS1313.1

全选

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