Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.Y46D

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
7 papers
NM_020989.4
p.Y46D
c.136T>G
Surrounding Variants
7 papers
NM_020989.4
p.L45P
c.134T>C
1 paper
NM_020989.4
p.E47K
c.139G>A
1 paper
NM_020989.4
p.M44K
c.131T>A
4 papers
NM_020989.4
p.M44delFs
c.130delT
4 papers
NM_020989.4
p.W43insFs
c.128_129ins5
18 papers
NM_020989.4
p.W43C
c.129G>C
16 papers
NM_020989.4
p.R48H
c.143G>A
3 papers
NM_020989.4
p.W43R
c.127T>C
3 papers
NM_020989.4
p.W43R
c.127T>A
1 paper
NM_020989.4
p.C42_W43insFs
c.126_127ins5
1 paper
NM_020989.4
p.C42fs
c.124_125fs
7 papers
NM_020989.4
p.C42delFs
c.124delA
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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."