Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.V16L

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.V16L
c.46G>C
Surrounding Variants
1 paper
NM_001886.3
p.V16L
c.46G>T
1 paper
NM_001886.3
p.V15A
c.44T>C
2 papers
NM_001886.3
p.M14K
c.41T>A
1 paper
NM_001886.3
p.M14T
c.41T>C
1 paper
NM_001886.3
p.M14L
c.40A>T
1 paper
NM_001886.3
p.D18N
c.52G>A
2 papers
NM_001886.3
p.K13_M14Splc
c.40-1G>C
1 paper
NM_001886.3
p.E19K
c.55G>A
1 paper
NM_001886.3
p.D20G
c.59A>G
1 paper
NM_001886.3
p.G21S
c.61G>A
1 paper
NM_001886.3
p.G21R
c.61G>C
1 paper
NM_001886.3
p.G21D
c.62G>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."