Type | Description |
---|---|
Definition | crystallin beta B3 |
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 |
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
|
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---|---|---|---|---|---|---|---|---|
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