Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.E30*

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.E30*
c.88G>T
Surrounding Variants
5 papers
NM_001289808.2
p.F28S
c.83T>C
1 paper
NM_001289808.2
p.L32P
c.95T>C
1 paper
NM_001289808.2
p.F27I
c.79T>A
2 papers
NM_001289808.2
p.L33W
c.98T>G
1 paper
NM_001289808.2
p.L33F
c.99G>T
1 paper
NM_001289808.2
p.L33F
c.99G>C
2 papers
NM_001289808.2
p.Q26*
c.76C>T
1 paper
NM_001289808.2
p.E34D
c.102G>T
1 paper
NM_001289808.2
p.E34D
c.102G>C
1 paper
NM_001289808.2
p.F24L
c.72T>G
1 paper
NM_001289808.2
p.F24L
c.72T>A
1 paper
NM_001289808.2
p.S35C
c.104C>G
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