Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.R56W

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
38 papers
NM_001289808.2
p.R56W
c.166C>T
Surrounding Variants
5 papers
NM_001289808.2
p.L55L
c.165G>A
2 papers
NM_001289808.2
p.R56Q
c.167G>A
1 paper
NM_001289808.2
p.L55P
c.164T>C
3 papers
NM_001289808.2
p.L55Q
c.164T>A
1 paper
NM_001289808.2
p.R56delFs
c.166_167delCG
1 paper
NM_001289808.2
p.A57G
c.170C>G
21 papers
NM_001289808.2
p.A57A
c.171A>T
1 paper
NM_001289808.2
p.F54V
c.160T>G
1 paper
NM_001289808.2
p.P58S
c.172C>T
2 papers
NM_001289808.2
p.P58A
c.172C>G
1 paper
NM_001289808.2
p.S59R
c.175A>C
1 paper
NM_001289808.2
p.S59N
c.176G>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."