Varaico: Literature-Extracted Genetic Variants

Gene:CRYGD
Variant:p.L92R

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.L92R
c.275T>G
Surrounding Variants
1 paper
NM_006891.4
p.Y93_E94del1
c.279_281delTCA
1 paper
NM_006891.4
p.I90F
c.268A>T
4 papers
NM_006891.4
p.R95R
c.285A>G
1 paper
NM_006891.4
p.H88H
c.264C>T
2 papers
NM_006891.4
p.H88Y
c.262C>T
2 papers
NM_006891.4
p.H88N
c.262C>A
1 paper
NM_006891.4
p.D97V
c.290A>T
1 paper
NM_006891.4
p.R99I
c.296G>T
1 paper
NM_006891.4
p.G100D
c.299G>A
3 papers
NM_006891.4
p.Q101*
c.301C>T
4 papers
NM_006891.4
p.I103_E104insFs
c.309_310insA
1 paper
NM_006891.4
p.E104fs
c.310_311fs
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