Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB3
Variant:p.A68V

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.A68V
c.203C>T
Surrounding Variants
1 paper
NM_004076.5
p.S71S
c.213C>T
1 paper
NM_004076.5
p.A73V
c.218C>T
1 paper
NM_004076.5
p.F74L
c.220T>C
7 papers
NM_004076.5
p.R75H
c.224G>A
6 papers
NM_004076.5
p.G76R
c.226G>A
6 papers
NM_004076.5
p.G76R
c.226G>C
2 papers
NM_004076.5
p.Q78R
c.233A>G
1 paper
NM_004076.5
p.V80D
c.239T>A
1 paper
NM_004076.5
p.L81P
c.242T>C
1 paper
NM_004076.5
p.P87L
c.260C>T
1 paper
NM_004076.5
p.R88S
c.262C>A
1 paper
NM_004076.5
p.R88C
c.262C>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."