Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.T12delFs

CRYBA1

134 papers

RefSeq Summary

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refract...

Pfam Domains

Crystallaa 32–116UCSCBeta/Gamma crystallin
Crystallaa 125–213UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta A1

HGNC Previous Symbol

CRYB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005208.5
p.T12delFs
c.36delC
Surrounding Variants
2 papers
NM_005208.5
p.A19D
c.56C>A
1 paper
NM_005208.5
p.T21del1
c.61_62delACC
1 paper
NM_005208.5
p.N22K
c.66C>A
1 paper
NM_005208.5
p.N22K
c.66C>G
6 papers
NM_005208.5
p.P23T
c.67C>A
3 papers
NM_005208.5
p.P25L
c.74C>T
1 paper
NM_005208.5
p.P30_W31delFs
c.90_91delAT
1 paper
NM_005208.5
p.N40_F41insFs
c.119_123dup5
1 paper
NM_005208.5
p.Q42E
c.124C>G
1 paper
NM_005208.5
p.G43_R45del0
c.129_134del6
1 paper
NM_005208.5
p.R45T
c.134G>C
1 paper
NM_005208.5
p.E47K
c.139G>A
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