Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.I124V

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
Selected Variant
1 paper
NM_001289808.2
p.I124V
c.370A>G
Surrounding Variants
2 papers
NM_001289808.2
p.R123Q
c.368G>A
13 papers
NM_001289808.2
p.R123W
c.367C>T
1 paper
NM_001289808.2
p.Y122C
c.365A>G
1 paper
NM_001289808.2
p.Y122H
c.364T>C
1 paper
NM_001289808.2
p.K121T
c.362A>C
2 papers
NM_001289808.2
p.D127Y
c.379G>T
1 paper
NM_001289808.2
p.R120R
c.360G>A
1 paper
NM_001289808.2
p.R120K
c.359G>A
291 papers
NM_001289808.2
p.R120G
c.358A>G
1 paper
NM_001289808.2
p.D129V
c.386A>T
1 paper
NM_001289808.2
p.F118S
c.353T>C
3 papers
NM_001289808.2
p.D129E
c.387C>G
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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."