Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.S143F

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
2 papers
NM_000496.3
p.S143F
c.428C>T
Surrounding Variants
1 paper
NM_000496.3
p.V144E
c.431T>A
1 paper
NM_000496.3
p.V144insFs
c.431_432insA
13 papers
NM_000496.3
p.R145W
c.433C>T
1 paper
NM_000496.3
p.R145Q
c.434G>A
1 paper
NM_000496.3
p.R145P
c.434G>C
9 papers
NM_000496.3
p.V146M
c.436G>A
3 papers
NM_000496.3
p.V146L
c.436G>C
4 papers
NM_000496.3
p.V146L
c.436G>T
12 papers
NM_000496.3
p.Q147R
c.440A>G
1 paper
NM_000496.3
p.G149D
c.446G>A
5 papers
NM_000496.3
p.G149V
c.446G>T
13 papers
NM_000496.3
p.T150M
c.449C>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."