Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.P39R

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
4 papers
NM_001289808.2
p.P39R
c.116C>G
Surrounding Variants
9 papers
NM_001289808.2
p.P39L
c.116C>T
1 paper
NM_001289808.2
p.P39Q
c.116C>A
2 papers
NM_001289808.2
p.P39S
c.115C>T
1 paper
NM_001289808.2
p.P39A
c.115C>G
1 paper
NM_001289808.2
p.F38L
c.114C>A
1 paper
NM_001289808.2
p.F38Y
c.113T>A
4 papers
NM_001289808.2
p.T40M
c.119C>T
1 paper
NM_001289808.2
p.S41P
c.121T>C
6 papers
NM_001289808.2
p.S41Y
c.122C>A
3 papers
NM_001289808.2
p.T42A
c.124A>G
1 paper
NM_001289808.2
p.T42_S43insFs
c.126_127ins5
1 paper
NM_001289808.2
p.T40_S41del2
c.118_122del6
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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."