Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA2

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
1–12 of 42 variants
6 papers
NM_057093.2
p.Y153H
c.457T>C
5 papers
NM_057093.2
p.V50M
c.148G>A
5 papers
NM_057093.2
p.N115D
c.343A>G
4 papers
NM_057093.2
p.S47P
c.139T>C
3 papers
NM_057093.2
p.P7S
c.19C>T
3 papers
NM_057093.2
p.G65R
c.193G>A
2 papers
NM_057093.2
p.G65R
c.193G>C
2 papers
NM_057093.2
p.A149Splc
c.446+1G>A
2 papers
NM_057093.2
p.S191P
c.571T>C
1 paper
NM_057093.2
p.M1K
c.2T>A
1 paper
NM_057093.2
p.M1I
c.3G>A
1 paper
NM_057093.2
p.L14H
c.41T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."