Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.Y134*

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
18 papers
NM_006891.4
p.Y134*
c.402C>A
Surrounding Variants
18 papers
NM_006891.4
p.Y134*
c.402C>G
1 paper
NM_006891.4
p.Y134fs
c.400_401fs
4 papers
NM_006891.4
p.E135*
c.403G>T
1 paper
NM_006891.4
p.Y134insFs
c.401_402dupAC
3 papers
NM_006891.4
p.Y134C
c.401A>G
1 paper
NM_006891.4
p.E135A
c.404A>C
1 paper
NM_006891.4
p.V132A
c.395T>C
1 paper
NM_006891.4
p.W131*
c.393G>A
1 paper
NM_006891.4
p.W131*
c.392G>A
1 paper
NM_006891.4
p.W131R
c.391T>C
1 paper
NM_006891.4
p.W131R
c.391T>A
1 paper
NM_006891.4
p.S130P
c.388T>C
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