Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.L146delFs

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
2 papers
NM_020989.4
p.L146delFs
c.438delC
Surrounding Variants
1 paper
NM_020989.4
p.R147fs
c.439_440fs
1 paper
NM_020989.4
p.L145fs
c.433_434fs
2 papers
NM_020989.4
p.R142_Y144insFs
c.425_432dup8
9 papers
NM_020989.4
p.Y144*
c.432C>G
9 papers
NM_020989.4
p.Y144*
c.432C>A
1 paper
NM_020989.4
p.E150insFs
c.448dupG
2 papers
NM_020989.4
p.R142W
c.424C>T
4 papers
NM_020989.4
p.G141insFs
c.423dupG
4 papers
NM_020989.4
p.G141delFs
c.423delC
1 paper
NM_020989.4
p.R140Q
c.419G>A
2 papers
NM_020989.4
p.R140W
c.418C>T
9 papers
NM_020989.4
p.Y139*
c.417C>G
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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."