Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.R26W

CRYBA4

99 papers

RefSeq Summary

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refract...

Pfam Domains

Crystallaa 13–97UCSCBeta/Gamma crystallin
Crystallaa 106–194UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta A4

HGNC Previous Name

crystallin, beta A4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001886.3
p.R26W
c.76C>T
Surrounding Variants
1 paper
NM_001886.3
p.R26Q
c.77G>A
1 paper
NM_001886.3
p.R26P
c.77G>C
2 papers
NM_001886.3
p.R25Q
c.74G>A
4 papers
NM_001886.3
p.R25W
c.73C>T
1 paper
NM_001886.3
p.G24V
c.71G>T
1 paper
NM_001886.3
p.E28K
c.82G>A
1 paper
NM_001886.3
p.F29I
c.85T>A
1 paper
NM_001886.3
p.F29L
c.85T>C
1 paper
NM_001886.3
p.F22L
c.66C>A
1 paper
NM_001886.3
p.F22L
c.66C>G
1 paper
NM_001886.3
p.F29L
c.87C>A
1 paper
NM_001886.3
p.F29L
c.87C>G
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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."