Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.R191C

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
1 paper
NM_000496.3
p.R191C
c.571C>T
Surrounding Variants
1 paper
NM_000496.3
p.R191H
c.572G>A
1 paper
NM_000496.3
p.R189H
c.566G>A
2 papers
NM_000496.3
p.R189C
c.565C>T
16 papers
NM_000496.3
p.R188H
c.563G>A
1 paper
NM_000496.3
p.R188P
c.563G>C
1 paper
NM_000496.3
p.R188L
c.563G>T
1 paper
NM_000496.3
p.R188S
c.562C>A
1 paper
NM_000496.3
p.Q194K
c.580C>A
5 papers
NM_000496.3
p.R188C
c.562C>T
10 papers
NM_000496.3
p.V187E
c.560T>A
12 papers
NM_000496.3
p.V187M
c.559G>A
6 papers
NM_000496.3
p.W195G
c.583T>G
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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."