Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4

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
1–12 of 238 variants
9 papers
NM_001886.3
p.L69P
c.206T>C
8 papers
NM_001886.3
p.A9V
c.26C>T
8 papers
NM_001886.3
p.G64W
c.190G>T
8 papers
NM_001886.3
p.F94S
c.281T>C
5 papers
NM_001886.3
p.V44M
c.130G>A
5 papers
NM_001886.3
p.F57F
c.171T>C
5 papers
NM_001886.3
p.E138G
c.413A>G
4 papers
NM_001886.3
p.R25W
c.73C>T
4 papers
NM_001886.3
p.G147V
c.440G>T
3 papers
NM_001886.3
p.V36M
c.106G>A
3 papers
NM_001886.3
p.R71*
c.211C>T
3 papers
NM_001886.3
p.S128F
c.383C>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."