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1417 CRYBB3

1417

CRYBB3

crystallin beta B3

protein-coding

Homo sapiens

基因描述

Type Description
Definition crystallin beta B3

研究结论

Date Results Publications
2017-10-28 12:00:00 The first pregnancy was terminated in week 22. Copy number variation analysis revealed, in both the aborted fetus and the mother, a 495 kb duplication at 22q11.23 encompassing CRYBB3 and CRYBB2 27256633
2017-07-22 13:09:00 a common ancestral mutation in CRYBB3 associated with autosomal recessive congenital cataracts identified in four familial cases of Pakistani origin, is reported. 27326458
2010-01-21 00:00:00 For the first time, a mutation in CRYBB3 is reported in two consanguineous Pakistani families with autosomal recessive congenital cataracts. 15914629

名称对应

Type IDs
Synonymous CATCN2, CRYB3, CTRCT22
Gene
UniProtKB-ID: CRBB3_HUMAN
UniprotKB: P26998
UniParc: UPI000013C6A0
EMBL: X15145, CR456427, BC102021, BC069479, X15144, U71216, BC107482, Z99916, X15146, BC102022
Ensembl: ENSG00000100053
KO: hsa:1417
Nucleutide sequences
EMBL-CDS: AAI02023.1, AAI02022.1, CAA33242.2, AAH69479.2, CAG30313.1, AAC50972.1, AAI07483.1
Ensembl_TRS: ENST00000215855
Protein sequencees
Ensembl_PRO: ENSP00000215855
RefSeq: NP_004067.1, XP_016884088.1
Others
UniRef100: UniRef100_P26998
UniRef90: UniRef90_P26998
UniRef50: UniRef50_P26998
UniGene: Hs.533022
CCDS: CCDS13830.1

全选

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研究热度

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