Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB3

CRYBB3

86 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 25–107UCSCBeta/Gamma crystallin
Crystallaa 115–197UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta B3

HGNC Previous Symbol

CRYB3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 84 variants
15 papers
NM_004076.5
p.G165R
c.493G>C
11 papers
NM_004076.5
p.G156R
c.466G>A
10 papers
NM_004076.5
p.G156R
c.466G>C
7 papers
NM_004076.5
p.R75H
c.224G>A
6 papers
NM_004076.5
p.G76R
c.226G>A
6 papers
NM_004076.5
p.G76R
c.226G>C
6 papers
NM_004076.5
p.R105Q
c.314G>A
6 papers
NM_004076.5
p.H113D
c.337C>G
6 papers
NM_004076.5
p.V194E
c.581T>A
4 papers
NM_004076.5
p.K25_V26Splc
c.75+1G>A
3 papers
NM_004076.5
p.E177D
c.531G>T
3 papers
NM_004076.5
p.*212R
c.634T>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."