Varaico: Literature-Extracted Genetic Variants

Gene:CRYGB
Variant:p.H123Y

CRYGB

67 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 90–171UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin gamma B

HGNC Previous Symbol

CRYG2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005210.4
p.H123Y
c.367C>T
Surrounding Variants
1 paper
NM_005210.4
p.H118R
c.353A>G
1 paper
NM_005210.4
p.C110_D115del6
c.328_344del18
1 paper
NM_005210.4
p.L134F
c.400C>T
1 paper
NM_005210.4
p.L134P
c.401T>C
6 papers
NM_005210.4
p.I111L
c.331A>C
1 paper
NM_005210.4
p.Y135Y
c.405T>C
1 paper
NM_005210.4
p.C110G
c.328T>G
1 paper
NM_005210.4
p.M103_D108del6
c.307_323del18
5 papers
NM_005210.4
p.G150V
c.449G>T
1 paper
NM_005210.4
p.G150G
c.450G>C
1 paper
NM_005210.4
p.E151K
c.451G>A
1 paper
NM_005210.4
p.A160fs
c.478_479fs
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