Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.A72Splc

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
28 papers
NM_005208.5
p.A72Splc
c.215+1G>A
Surrounding Variants
12 papers
NM_005208.5
p.A72Splc
c.215+1G>C
7 papers
NM_005208.5
p.A72Splc
c.215+1G>T
1 paper
NM_005208.5
p.A72Splc
c.215+2T>A
1 paper
NM_005208.5
p.A72Splc
c.215+2T>C
5 papers
NM_005208.5
p.A72Splc
c.215+2T>G
3 papers
NM_005208.5
p.G71G
c.213C>T
1 paper
NM_005208.5
p.A72Splc
c.215+5G>C
1 paper
NM_005208.5
p.A72Splc
c.215+16C>A
1 paper
NM_005208.5
p.A72Splc
c.215+16C>T
1 paper
NM_005208.5
p.S65_L66delFs
c.195_196delCC
1 paper
NM_005208.5
p.R64W
c.190C>T
3 papers
NM_005208.5
p.R58H
c.173G>A
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