Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.R50G

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.R50G
c.148C>G
Surrounding Variants
1 paper
NM_001289808.2
p.R50Q
c.149G>A
1 paper
NM_001289808.2
p.L49F
c.145C>T
2 papers
NM_001289808.2
p.P51A
c.151C>G
13 papers
NM_001289808.2
p.P51L
c.152C>T
1 paper
NM_001289808.2
p.P46L
c.137C>T
1 paper
NM_001289808.2
p.F54V
c.160T>G
3 papers
NM_001289808.2
p.S45T
c.134G>C
2 papers
NM_001289808.2
p.S45N
c.134G>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.L44P
c.131T>C
3 papers
NM_001289808.2
p.L44Q
c.131T>A
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