Varaico: Literature-Extracted Genetic Variants

Gene:CRYGS
Variant:p.S39C

CRYGS

112 papers

RefSeq Summary

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refract...

Pfam Domains

Crystallaa 7–86UCSCBeta/Gamma crystallin
Crystallaa 95–176UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin gamma S

HGNC Previous Symbol

CRYG8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
15 papers
NM_017541.4
p.S39C
c.116C>G
Surrounding Variants
1 paper
NM_017541.4
p.S39F
c.116C>T
15 papers
NM_017541.4
p.V42M
c.124G>A
1 paper
NM_017541.4
p.R36H
c.107G>A
1 paper
NM_017541.4
p.R36C
c.106C>T
6 papers
NM_017541.4
p.R36S
c.106C>A
3 papers
NM_017541.4
p.G44R
c.130G>A
1 paper
NM_017541.4
p.Y33*
c.99C>G
1 paper
NM_017541.4
p.Y33*
c.99C>A
1 paper
NM_017541.4
p.G45A
c.134G>C
1 paper
NM_017541.4
p.A48T
c.142G>A
2 papers
NM_017541.4
p.C27S
c.80G>C
2 papers
NM_017541.4
p.C27S
c.79T>A
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