Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.Q27K

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
1 paper
NM_006891.4
p.Q27K
c.79C>A
Surrounding Variants
1 paper
NM_006891.4
p.N25D
c.73A>G
15 papers
NM_006891.4
p.P24S
c.70C>T
44 papers
NM_006891.4
p.P24T
c.70C>A
1 paper
NM_006891.4
p.H23Q
c.69C>A
1 paper
NM_006891.4
p.L30insFs
c.89dupT
1 paper
NM_006891.4
p.H23N
c.67C>A
1 paper
NM_006891.4
p.S31G
c.91A>G
1 paper
NM_006891.4
p.N34S
c.101A>G
9 papers
NM_006891.4
p.A36P
c.106G>C
1 paper
NM_006891.4
p.E18K
c.52G>A
4 papers
NM_006891.4
p.Y17*
c.51T>G
5 papers
NM_006891.4
p.Y17Y
c.51T>C
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