Varaico: Literature-Extracted Genetic Variants

Gene:CRYGA
Variant:p.V76A

CRYGA

70 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 3–82UCSCBeta/Gamma crystallin
Crystallaa 89–170UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin gamma A

HGNC Previous Symbol

CRYG1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014617.4
p.V76A
c.227T>C
Surrounding Variants
1 paper
NM_014617.4
p.S75W
c.224C>G
1 paper
NM_014617.4
p.Q77R
c.230A>G
1 paper
NM_014617.4
p.S73I
c.218G>T
9 papers
NM_014617.4
p.R80H
c.239G>A
1 paper
NM_014617.4
p.I82M
c.246T>G
5 papers
NM_014617.4
p.Y66H
c.196T>C
1 paper
NM_014617.4
p.R59S
c.175C>A
1 paper
NM_014617.4
p.P49S
c.145C>T
1 paper
NM_014617.4
p.R48H
c.143G>A
4 papers
NM_014617.4
p.R48C
c.142C>T
1 paper
NM_014617.4
p.W43R
c.127T>C
1 paper
NM_014617.4
p.S40C
c.118A>T
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