Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.E107A

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
30 papers
NM_006891.4
p.E107A
c.320A>C
Surrounding Variants
1 paper
NM_006891.4
p.E107K
c.319G>A
1 paper
NM_006891.4
p.F105S
c.314T>C
2 papers
NM_006891.4
p.C109*
c.327C>A
1 paper
NM_006891.4
p.S110delins
c.329delinsT
4 papers
NM_006891.4
p.I103_E104insFs
c.309_310insA
1 paper
NM_006891.4
p.E104fs
c.310_311fs
1 paper
NM_006891.4
p.S110Fs
c.328_329delinsTFs
1 paper
NM_006891.4
p.L112V
c.334C>G
1 paper
NM_006891.4
p.T106_C111del6
c.316_332del18
3 papers
NM_006891.4
p.Q101*
c.301C>T
1 paper
NM_006891.4
p.G100D
c.299G>A
1 paper
NM_006891.4
p.R99I
c.296G>T
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