Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.R140W

CRYBB1

191 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 60–142UCSCBeta/Gamma crystallin
Crystallaa 150–232UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta B1

HGNC Previous Name

crystallin, beta B1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001887.4
p.R140W
c.418C>T
Surrounding Variants
1 paper
NM_001887.4
p.D134G
c.401A>G
1 paper
NM_001887.4
p.S133S
c.399T>C
1 paper
NM_001887.4
p.R132C
c.394C>T
1 paper
NM_001887.4
p.M144_D145Splc
c.432+15G>A
26 papers
NM_001887.4
p.S129R
c.387C>G
26 papers
NM_001887.4
p.S129R
c.387C>A
26 papers
NM_001887.4
p.S129R
c.385A>C
4 papers
NM_001887.4
p.R123H
c.368G>A
1 paper
NM_001887.4
p.E120G
c.359A>G
1 paper
NM_001887.4
p.G119R
c.355G>C
1 paper
NM_001887.4
p.G119S
c.355G>A
6 papers
NM_001887.4
p.L116P
c.347T>C
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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."