Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA2
Variant:p.L14H

CRYBA2

53 papers

RefSeq Summary

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain the transparenc...

Pfam Domains

Crystallaa 13–98UCSCBeta/Gamma crystallin
Crystallaa 107–195UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta A2

HGNC Previous Name

crystallin, beta A2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_057093.2
p.L14H
c.41T>A
Surrounding Variants
3 papers
NM_057093.2
p.P7S
c.19C>T
1 paper
NM_057093.2
p.G24R
c.70G>C
1 paper
NM_057093.2
p.C27R
c.79T>C
1 paper
NM_057093.2
p.M1I
c.3G>A
1 paper
NM_057093.2
p.M1K
c.2T>A
1 paper
NM_057093.2
p.P43A
c.127C>G
4 papers
NM_057093.2
p.S47P
c.139T>C
5 papers
NM_057093.2
p.V50M
c.148G>A
1 paper
NM_057093.2
p.F63S
c.188T>C
2 papers
NM_057093.2
p.G65R
c.193G>C
3 papers
NM_057093.2
p.G65R
c.193G>A
1 paper
NM_057093.2
p.Y75H
c.223T>C
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