Varaico: Literature-Extracted Genetic Variants

Gene:CRYAB
Variant:p.R11H

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
36 papers
NM_001289808.2
p.R11H
c.32G>A
Surrounding Variants
15 papers
NM_001289808.2
p.R11C
c.31C>T
4 papers
NM_001289808.2
p.R11G
c.31C>G
22 papers
NM_001289808.2
p.R12C
c.34C>T
2 papers
NM_001289808.2
p.R12G
c.34C>G
1 paper
NM_001289808.2
p.I10insFs
c.28_29insA
2 papers
NM_001289808.2
p.R12L
c.35G>T
11 papers
NM_001289808.2
p.W9*
c.27G>A
1 paper
NM_001289808.2
p.P13S
c.37C>T
12 papers
NM_001289808.2
p.W9*
c.26G>A
1 paper
NM_001289808.2
p.W9ins5
c.25_26ins15
1 paper
NM_001289808.2
p.F14V
c.40T>G
2 papers
NM_001289808.2
p.P8S
c.22C>T
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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."