Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC

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
1–12 of 142 variants
38 papers
NM_020989.4
p.T5P
c.13A>C
22 papers
NM_020989.4
p.R168W
c.502C>T
20 papers
NM_020989.4
p.G129C
c.385G>T
19 papers
NM_020989.4
p.W157*
c.470G>A
19 papers
NM_020989.4
p.W157*
c.471G>A
18 papers
NM_020989.4
p.W43C
c.129G>C
18 papers
NM_020989.4
p.C109*
c.327C>A
16 papers
NM_020989.4
p.R48H
c.143G>A
9 papers
NM_020989.4
p.Y139*
c.417C>G
9 papers
NM_020989.4
p.Y144*
c.432C>G
9 papers
NM_020989.4
p.Y144*
c.432C>A
9 papers
NM_020989.4
p.S166F
c.497C>T
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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."