Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB

CRYAB

662 papers

RefSeq Summary

Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystal...

Pfam Domains

Crystallinaa 1–56UCSCAlpha crystallin A chain, N terminal
HSP20aa 67–162UCSCHsp20/alpha crystallin family

Gene Aliases

HGNC Name

crystallin alpha B

HGNC Previous Symbol

CRYA2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 233 variants
291 papers
NM_001289808.2
p.R120G
c.358A>G
54 papers
NM_001289808.2
p.G154S
c.460G>A
52 papers
NM_001289808.2
p.R157H
c.470G>A
38 papers
NM_001289808.2
p.P20S
c.58C>T
38 papers
NM_001289808.2
p.R56W
c.166C>T
37 papers
NM_001289808.2
p.D109H
c.325G>C
37 papers
NM_001289808.2
p.Q151*
c.451C>T
36 papers
NM_001289808.2
p.R11H
c.32G>A
31 papers
NM_001289808.2
p.D140N
c.418G>A
29 papers
NM_001289808.2
p.D109G
c.326A>G
25 papers
NM_001289808.2
p.D109A
c.326A>C
24 papers
NM_001289808.2
p.R69C
c.205C>T
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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."