Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2

CRYBB2

223 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 18–100UCSCBeta/Gamma crystallin
Crystallaa 108–190UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta B2

HGNC Previous Symbols

CCA2; CRYB2A; CRYB2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 149 variants
82 papers
NM_000496.3
p.Q155*
c.463C>T
30 papers
NM_000496.3
p.W151C
c.453G>C
30 papers
NM_000496.3
p.W151C
c.453G>T
18 papers
NM_000496.3
p.D128V
c.383A>T
16 papers
NM_000496.3
p.R188H
c.563G>A
13 papers
NM_000496.3
p.R145W
c.433C>T
13 papers
NM_000496.3
p.T150M
c.449C>T
12 papers
NM_000496.3
p.A2V
c.5C>T
12 papers
NM_000496.3
p.S31W
c.92C>G
12 papers
NM_000496.3
p.W59C
c.177G>C
12 papers
NM_000496.3
p.Q147R
c.440A>G
12 papers
NM_000496.3
p.V187M
c.559G>A
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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."