Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.S107delFs

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.S107delFs
c.320delG
Surrounding Variants
2 papers
NM_001887.4
p.F109Y
c.326T>A
1 paper
NM_001887.4
p.R110C
c.328C>T
1 paper
NM_001887.4
p.R110delins
c.329delinsT
1 paper
NM_001887.4
p.R110Fs
c.328_329delinsTFs
1 paper
NM_001887.4
p.Q106_G111del6
c.316_332del18
1 paper
NM_001887.4
p.P100P
c.300C>T
6 papers
NM_001887.4
p.L116P
c.347T>C
1 paper
NM_001887.4
p.G119R
c.355G>C
1 paper
NM_001887.4
p.G119S
c.355G>A
1 paper
NM_001887.4
p.E120G
c.359A>G
4 papers
NM_001887.4
p.R123H
c.368G>A
26 papers
NM_001887.4
p.S129R
c.385A>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."