Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB3
Variant:p.V194E

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
6 papers
NM_004076.5
p.V194E
c.581T>A
Surrounding Variants
2 papers
NM_004076.5
p.V194G
c.581T>G
1 paper
NM_004076.5
p.R195H
c.584G>A
1 paper
NM_004076.5
p.R196H
c.587G>A
1 paper
NM_004076.5
p.R198C
c.592C>T
1 paper
NM_004076.5
p.Q190H
c.570G>C
1 paper
NM_004076.5
p.Q190H
c.570G>T
2 papers
NM_004076.5
p.R198H
c.593G>A
1 paper
NM_004076.5
p.P189L
c.566C>T
1 paper
NM_004076.5
p.P189S
c.565C>T
1 paper
NM_004076.5
p.W202*
c.605G>A
1 paper
NM_004076.5
p.W202*
c.606G>A
1 paper
NM_004076.5
p.H203Q
c.609C>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."