Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.V132fs

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.V132fs
c.394_395fs
Surrounding Variants
2 papers
NM_020989.4
p.C130insFs
c.389_390ins4
3 papers
NM_020989.4
p.V132delFs
c.394delC
1 paper
NM_020989.4
p.V132fs
c.394_395fs
2 papers
NM_020989.4
p.W131R
c.391T>C
2 papers
NM_020989.4
p.W131R
c.391T>A
1 paper
NM_020989.4
p.G129_C130insFs
c.386_389dup4
2 papers
NM_020989.4
p.C130fs
c.388_389fs
6 papers
NM_020989.4
p.Y134*
c.402C>G
6 papers
NM_020989.4
p.Y134*
c.402C>A
20 papers
NM_020989.4
p.G129C
c.385G>T
7 papers
NM_020989.4
p.E135*
c.403G>T
1 paper
NM_020989.4
p.E135K
c.403G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."