Varaico: Literature-Extracted Genetic Variants

Gene:CRYGC
Variant:p.S166F

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
9 papers
NM_020989.4
p.S166F
c.497C>T
Surrounding Variants
1 paper
NM_020989.4
p.G165delFs
c.494delC
1 paper
NM_020989.4
p.G165D
c.494G>A
22 papers
NM_020989.4
p.R168W
c.502C>T
1 paper
NM_020989.4
p.R168P
c.503G>C
1 paper
NM_020989.4
p.A164P
c.490G>C
1 paper
NM_020989.4
p.K163K
c.489G>A
5 papers
NM_020989.4
p.R169*
c.505A>T
1 paper
NM_020989.4
p.A159fs
c.475_476fs
1 paper
NM_020989.4
p.G158G
c.474G>C
1 paper
NM_020989.4
p.G158R
c.472G>C
1 paper
NM_020989.4
p.G158R
c.472G>A
19 papers
NM_020989.4
p.W157*
c.471G>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."