Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.P20S

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.P20S
c.58C>T
Surrounding Variants
1 paper
NM_001289808.2
p.P20L
c.59C>T
17 papers
NM_001289808.2
p.P20R
c.59C>G
1 paper
NM_001289808.2
p.S19Y
c.56C>A
1 paper
NM_001289808.2
p.S19P
c.55T>C
2 papers
NM_001289808.2
p.S21fs
c.61_62fs
12 papers
NM_001289808.2
p.P20delFs
c.60delG
1 paper
NM_001289808.2
p.S21N
c.62G>A
1 paper
NM_001289808.2
p.S21fs
c.61_62fs
4 papers
NM_001289808.2
p.H18L
c.53A>T
1 paper
NM_001289808.2
p.R22H
c.65G>A
1 paper
NM_001289808.2
p.L23P
c.68T>C
1 paper
NM_001289808.2
p.F24L
c.70T>C
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