Varaico: Literature-Extracted Genetic Variants

Gene:CRYGA
Variant:p.M1V

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.M1V
c.1A>G
Surrounding Variants
1 paper
NM_014617.4
p.M1K
c.2T>A
1 paper
NM_014617.4
p.M1I
c.3G>T
1 paper
NM_014617.4
p.M1I
c.3G>A
2 papers
NM_014617.4
p.R10P
c.29G>C
1 paper
NM_014617.4
p.G14C
c.40G>T
1 paper
NM_014617.4
p.R15insFs
c.43_44insC
3 papers
NM_014617.4
p.N18I
c.53A>T
1 paper
NM_014617.4
p.N25D
c.73A>G
1 paper
NM_014617.4
p.F30V
c.88T>G
1 paper
NM_014617.4
p.S40C
c.118A>T
1 paper
NM_014617.4
p.W43R
c.127T>C
4 papers
NM_014617.4
p.R48C
c.142C>T
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