Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.S35R

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.S35R
c.103A>C
Surrounding Variants
2 papers
NM_001886.3
p.S35R
c.105C>A
2 papers
NM_001886.3
p.S35R
c.105C>G
1 paper
NM_001886.3
p.P34A
c.100C>G
2 papers
NM_001886.3
p.P34S
c.100C>T
3 papers
NM_001886.3
p.V36M
c.106G>A
1 paper
NM_001886.3
p.C33Y
c.98G>A
1 paper
NM_001886.3
p.E32K
c.94G>A
1 paper
NM_001886.3
p.A31S
c.91G>T
1 paper
NM_001886.3
p.T30M
c.89C>T
1 paper
NM_001886.3
p.T30S
c.88A>T
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."