Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB3
Variant:p.T157M

CRYBB3

86 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 25–107UCSCBeta/Gamma crystallin
Crystallaa 115–197UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta B3

HGNC Previous Symbol

CRYB3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004076.5
p.T157M
c.470C>T
Surrounding Variants
1 paper
NM_004076.5
p.T157Splc
c.470+1G>A
2 papers
NM_004076.5
p.G156E
c.467G>A
11 papers
NM_004076.5
p.G156R
c.466G>A
10 papers
NM_004076.5
p.G156R
c.466G>C
1 paper
NM_004076.5
p.A149V
c.446C>T
1 paper
NM_004076.5
p.Q145fs
c.433_434fs
1 paper
NM_004076.5
p.F144insFs
c.431dupT
1 paper
NM_004076.5
p.D134G
c.401A>G
2 papers
NM_004076.5
p.E130K
c.388G>A
1 paper
NM_004076.5
p.R127H
c.380G>A
1 paper
NM_004076.5
p.L118P
c.353T>C
6 papers
NM_004076.5
p.H113D
c.337C>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."