Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.S52W

CRYGD

250 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 3–82UCSCBeta/Gamma crystallin
Crystallaa 89–170UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin gamma D

HGNC Previous Symbol

CRYG4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_006891.4
p.S52W
c.155C>G
Surrounding Variants
26 papers
NM_006891.4
p.Y56*
c.168C>G
24 papers
NM_006891.4
p.Y56*
c.168C>A
1 paper
NM_006891.4
p.Q48K
c.142C>A
1 paper
NM_006891.4
p.E47K
c.139G>A
1 paper
NM_006891.4
p.R59S
c.175C>A
5 papers
NM_006891.4
p.L45P
c.134T>C
14 papers
NM_006891.4
p.R59H
c.176G>A
1 paper
NM_006891.4
p.M44K
c.131T>A
4 papers
NM_006891.4
p.M44V
c.130A>G
27 papers
NM_006891.4
p.G61C
c.181G>T
4 papers
NM_006891.4
p.G61R
c.181G>C
2 papers
NM_006891.4
p.W43C
c.129G>C
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