Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.G10R

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.G10R
c.28G>A
Surrounding Variants
1 paper
NM_001886.3
p.G10R
c.28G>C
8 papers
NM_001886.3
p.A9V
c.26C>T
1 paper
NM_001886.3
p.W12R
c.34T>A
1 paper
NM_001886.3
p.W12R
c.34T>C
1 paper
NM_001886.3
p.W12*
c.35G>A
1 paper
NM_001886.3
p.W12*
c.36G>A
1 paper
NM_001886.3
p.K13E
c.37A>G
1 paper
NM_001886.3
p.K13_M14Splc
c.39+14T>G
2 papers
NM_001886.3
p.M1K
c.2T>A
2 papers
NM_001886.3
p.K13_M14Splc
c.40-1G>C
1 paper
NM_001886.3
p.M14L
c.40A>T
2 papers
NM_001886.3
p.M14K
c.41T>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."