Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.D78G

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
2 papers
NM_001886.3
p.D78G
c.233A>G
Surrounding Variants
1 paper
NM_001886.3
p.A79P
c.235G>C
1 paper
NM_001886.3
p.A79S
c.235G>T
1 paper
NM_001886.3
p.A79D
c.236C>A
2 papers
NM_001886.3
p.S76T
c.227G>C
1 paper
NM_001886.3
p.S76G
c.226A>G
1 paper
NM_001886.3
p.G81D
c.242G>A
1 paper
NM_001886.3
p.G81G
c.243C>A
1 paper
NM_001886.3
p.G82S
c.244G>A
1 paper
NM_001886.3
p.Y74H
c.220T>C
1 paper
NM_001886.3
p.E73D
c.219A>C
1 paper
NM_001886.3
p.E73D
c.219A>T
1 paper
NM_001886.3
p.E73K
c.217G>A
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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."