Varaico: Literature-Extracted Genetic Variants

Gene:CRYGS
Variant:p.Q93E

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
1 paper
NM_017541.4
p.Q93E
c.277C>G
Surrounding Variants
1 paper
NM_017541.4
p.G91del1
c.271_273delTCC
1 paper
NM_017541.4
p.G102E
c.305G>A
2 papers
NM_017541.4
p.D103_F104insFs
c.309_310insA
2 papers
NM_017541.4
p.S105T
c.314G>C
1 paper
NM_017541.4
p.S105S
c.315T>C
3 papers
NM_017541.4
p.G106V
c.317G>T
1 paper
NM_017541.4
p.Q107E
c.319C>G
1 paper
NM_017541.4
p.M108R
c.323T>G
1 paper
NM_017541.4
p.E110*
c.328G>T
2 papers
NM_017541.4
p.C115S
c.343T>A
2 papers
NM_017541.4
p.C115S
c.344G>C
1 paper
NM_017541.4
p.Q121E
c.361C>G
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