Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.F30insFs

CRYGC

181 papers

RefSeq Summary

This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the l...

Pfam Domains

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

Gene Aliases

HGNC Name

crystallin gamma C

HGNC Previous Symbol

CRYG3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020989.4
p.F30insFs
c.89dupT
Surrounding Variants
2 papers
NM_020989.4
p.P28L
c.83C>T
1 paper
NM_020989.4
p.Q27fs
c.79_80fs
1 paper
NM_020989.4
p.Q27insFs
c.79dupC
1 paper
NM_020989.4
p.N25D
c.73A>G
3 papers
NM_020989.4
p.R37P
c.110G>C
3 papers
NM_020989.4
p.R37Q
c.110G>A
4 papers
NM_020989.4
p.P24T
c.70C>A
1 paper
NM_020989.4
p.T21del1
c.61_63delAGT
2 papers
NM_020989.4
p.G41_C42insFs
c.123_124ins5
7 papers
NM_020989.4
p.S40_G41insFs
c.119_123dup5
1 paper
NM_020989.4
p.S40_G41del2
c.118_122del6
5 papers
NM_020989.4
p.C42fs
c.124_125fs
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