Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB2
Variant:p.E123K

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.E123K
c.367G>A
Surrounding Variants
9 papers
NM_000496.3
p.G119R
c.355G>A
10 papers
NM_000496.3
p.G119R
c.355G>C
18 papers
NM_000496.3
p.D128V
c.383A>T
1 paper
NM_000496.3
p.V129E
c.386T>A
1 paper
NM_000496.3
p.P115T
c.343C>A
1 paper
NM_000496.3
p.L111I
c.331C>A
1 paper
NM_000496.3
p.I110delins
c.329delinsT
1 paper
NM_000496.3
p.I110Fs
c.328_329delinsTFs
3 papers
NM_000496.3
p.I109N
c.326T>A
1 paper
NM_000496.3
p.H107D
c.319C>G
2 papers
NM_000496.3
p.S143F
c.428C>T
1 paper
NM_000496.3
p.V144E
c.431T>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."