Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.T21del1

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.T21del1
c.61_63delAGT
Surrounding Variants
4 papers
NM_020989.4
p.P24T
c.70C>A
1 paper
NM_020989.4
p.N25D
c.73A>G
1 paper
NM_020989.4
p.E18K
c.52G>A
1 paper
NM_020989.4
p.Q27insFs
c.79dupC
1 paper
NM_020989.4
p.Q27fs
c.79_80fs
2 papers
NM_020989.4
p.P28L
c.83C>T
3 papers
NM_020989.4
p.R15C
c.43C>T
2 papers
NM_020989.4
p.R15S
c.43C>A
1 paper
NM_020989.4
p.G14A
c.41G>C
1 paper
NM_020989.4
p.F30insFs
c.89dupT
3 papers
NM_020989.4
p.R37P
c.110G>C
3 papers
NM_020989.4
p.R37Q
c.110G>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."