Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.H101P

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.H101P
c.302A>C
Surrounding Variants
1 paper
NM_001289808.2
p.H101R
c.302A>G
2 papers
NM_001289808.2
p.H101N
c.301C>A
4 papers
NM_001289808.2
p.E99*
c.295G>T
1 paper
NM_001289808.2
p.H104R
c.311A>G
1 paper
NM_001289808.2
p.H104delFs
c.310delG
2 papers
NM_001289808.2
p.H104Q
c.312T>G
2 papers
NM_001289808.2
p.H104Q
c.312T>A
1 paper
NM_001289808.2
p.E105K
c.313G>A
1 paper
NM_001289808.2
p.E105D
c.315A>T
1 paper
NM_001289808.2
p.E106Q
c.316G>C
1 paper
NM_001289808.2
p.D96G
c.287A>G
1 paper
NM_001289808.2
p.R107C
c.319C>T
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