Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.S115fs

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.S115fs
c.343_344fs
Surrounding Variants
1 paper
NM_001289808.2
p.S115C
c.344C>G
13 papers
NM_001289808.2
p.S115delFs
c.343delA
1 paper
NM_001289808.2
p.I114T
c.341T>C
1 paper
NM_001289808.2
p.S115fs
c.343_344fs
1 paper
NM_001289808.2
p.R116K
c.347G>A
1 paper
NM_001289808.2
p.F113Y
c.338T>A
1 paper
NM_001289808.2
p.R116S
c.348G>T
1 paper
NM_001289808.2
p.R116S
c.348G>C
1 paper
NM_001289808.2
p.E117K
c.349G>A
1 paper
NM_001289808.2
p.F118S
c.353T>C
1 paper
NM_001289808.2
p.E110delins
c.329delinsT
1 paper
NM_001289808.2
p.E110insFs
c.328dupG
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