Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.Q155*

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
Selected Variant
82 papers
NM_000496.3
p.Q155*
c.463C>T
Surrounding Variants
4 papers
NM_000496.3
p.Q155K
c.463C>A
1 paper
NM_000496.3
p.Q155H
c.465G>C
2 papers
NM_000496.3
p.Q155H
c.465G>T
1 paper
NM_000496.3
p.Y156C
c.467A>G
1 paper
NM_000496.3
p.Q155_P157del0
c.464_469del6
1 paper
NM_000496.3
p.G153D
c.458G>A
1 paper
NM_000496.3
p.P157R
c.470C>G
5 papers
NM_000496.3
p.P157P
c.471C>T
1 paper
NM_000496.3
p.V152G
c.455T>G
1 paper
NM_000496.3
p.G158R
c.472G>C
1 paper
NM_000496.3
p.W151*
c.453G>A
30 papers
NM_000496.3
p.W151C
c.453G>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."