Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1

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
1–12 of 134 variants
26 papers
NM_001887.4
p.S129R
c.385A>C
26 papers
NM_001887.4
p.S129R
c.387C>G
26 papers
NM_001887.4
p.S129R
c.387C>A
21 papers
NM_001887.4
p.G220*
c.658G>T
18 papers
NM_001887.4
p.G57delFs
c.171delC
18 papers
NM_001887.4
p.S228P
c.682T>C
14 papers
NM_001887.4
p.*253R
c.757T>C
13 papers
NM_001887.4
p.R233H
c.698G>A
13 papers
NM_001887.4
p.*253R
c.757T>A
12 papers
NM_001887.4
p.Q223*
c.667C>T
9 papers
NM_001887.4
p.M1K
c.2T>A
7 papers
NM_001887.4
p.V96F
c.286G>T
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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."