Varaico: Literature-Extracted Genetic Variants

Gene:CRYGA
Variant:p.R99*

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
4 papers
NM_014617.4
p.R99*
c.295C>T
Surrounding Variants
1 paper
NM_014617.4
p.D96G
c.287A>G
1 paper
NM_014617.4
p.D96Y
c.286G>T
1 paper
NM_014617.4
p.M102I
c.306G>T
1 paper
NM_014617.4
p.M102I
c.306G>C
1 paper
NM_014617.4
p.M102I
c.306G>A
1 paper
NM_014617.4
p.E104E
c.312G>A
1 paper
NM_014617.4
p.C109*
c.327C>A
1 paper
NM_014617.4
p.S86N
c.257G>A
1 paper
NM_014617.4
p.E120K
c.358G>A
1 paper
NM_014617.4
p.Y151*
c.453C>G
1 paper
NM_014617.4
p.Y151*
c.453C>A
1 paper
NM_014617.4
p.Y154*
c.462C>G
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