Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.Y144*

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
2 papers
NM_006891.4
p.Y144*
c.432C>G
Surrounding Variants
1 paper
NM_006891.4
p.Y144*
c.432C>A
1 paper
NM_006891.4
p.R142R
c.426G>A
1 paper
NM_006891.4
p.R142L
c.425G>T
1 paper
NM_006891.4
p.R142Q
c.425G>A
1 paper
NM_006891.4
p.R142W
c.424C>T
1 paper
NM_006891.4
p.Q143_M147del5
c.427_440del15
27 papers
NM_006891.4
p.R140*
c.418C>T
1 paper
NM_006891.4
p.R140G
c.418C>G
3 papers
NM_006891.4
p.R140R
c.418C>A
1 paper
NM_006891.4
p.D150fs
c.448_449fs
1 paper
NM_006891.4
p.D150insFs
c.448dupG
3 papers
NM_006891.4
p.Y151insFs
c.451_452ins4
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