Varaico: Literature-Extracted Genetic Variants

Gene:CRYGB
Variant:p.R48H

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.R48H
c.143G>A
Surrounding Variants
1 paper
NM_005210.4
p.E47*
c.139G>T
1 paper
NM_005210.4
p.C42fs
c.124_125fs
1 paper
NM_005210.4
p.Q55Q
c.165G>A
1 paper
NM_005210.4
p.R37_E39del3
c.109_116del9
1 paper
NM_005210.4
p.S40T
c.119G>C
1 paper
NM_005210.4
p.R37_E39del0
c.110_115del6
1 paper
NM_005210.4
p.R59Q
c.176G>A
1 paper
NM_005210.4
p.R59R
c.177G>C
1 paper
NM_005210.4
p.R59R
c.177G>A
1 paper
NM_005210.4
p.S35_I36del0
c.103_108del6
1 paper
NM_005210.4
p.G61W
c.181G>T
1 paper
NM_005210.4
p.N34S
c.101A>G
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