Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.N78S

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
2 papers
NM_001289808.2
p.N78S
c.233A>G
Surrounding Variants
5 papers
NM_001289808.2
p.N78D
c.232A>G
1 paper
NM_001289808.2
p.V77V
c.231C>T
1 paper
NM_001289808.2
p.D80Y
c.238G>T
1 paper
NM_001289808.2
p.F75I
c.223T>A
1 paper
NM_001289808.2
p.H83H
c.249C>T
5 papers
NM_001289808.2
p.H83Q
c.249C>G
1 paper
NM_001289808.2
p.F84F
c.252C>T
1 paper
NM_001289808.2
p.S85C
c.254C>G
1 paper
NM_001289808.2
p.P86A
c.256C>G
24 papers
NM_001289808.2
p.R69C
c.205C>T
2 papers
NM_001289808.2
p.M68I
c.204G>T
2 papers
NM_001289808.2
p.M68I
c.204G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."