Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.S135L

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.S135L
c.404C>T
Surrounding Variants
2 papers
NM_001289808.2
p.S136A
c.406T>G
1 paper
NM_001289808.2
p.S136T
c.406T>A
1 paper
NM_001289808.2
p.L137M
c.409C>A
2 papers
NM_001289808.2
p.S138*
c.413C>G
1 paper
NM_001289808.2
p.S138delFs
c.414delT
1 paper
NM_001289808.2
p.D140Y
c.418G>T
31 papers
NM_001289808.2
p.D140N
c.418G>A
1 paper
NM_001289808.2
p.G141R
c.421G>C
2 papers
NM_001289808.2
p.G141R
c.421G>A
3 papers
NM_001289808.2
p.D129E
c.387C>G
3 papers
NM_001289808.2
p.D129E
c.387C>A
1 paper
NM_001289808.2
p.D129V
c.386A>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."