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84455 EFCAB7

84455

EFCAB7

EF-hand calcium binding domain 7

protein-coding

Homo sapiens

基因描述

Type Description
Definition EF-hand calcium binding domain 7

研究结论

Date Results Publications
2019-07-13 12:22:00 Novel mutation in EFCAB7 alters expression and interaction with EVC2 protein. 29845660
2017-02-18 12:28:00 we detected two novel nonsense mutations and a partial deletion of EVC/EVC2 in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related disorders. 26748586

名称对应

Type IDs
Gene
UniProtKB-ID: EFCB7_HUMAN
UniprotKB: A8K855
UniParc: UPI000006EAB2, UPI00001D7D14
EMBL: BC015814, CH471059, AB058702, AL833720, AL109925, AK315850, BX004807, AK292220
Ensembl: ENSG00000203965
KO: hsa:84455
Nucleutide sequences
EMBL-CDS: CAH56237.1, EAX06570.1, BAB47428.1, BAF98741.1, AAH15814.1, BAF84909.1
Ensembl_TRS: ENST00000371088
Protein sequencees
Ensembl_PRO: ENSP00000360129
RefSeq: XP_011540603.1, XP_005271331.1, XP_006711040.1, NP_115813.2, XP_006711039.1, XP_016858037.1
Others
UniRef100: UniRef100_A8K855
UniRef90: UniRef90_A8K855
UniRef50: UniRef50_A8K855
UniGene: Hs.652324
CCDS: CCDS30737.1

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