Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB3
Variant:p.E32K

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.E32K
c.94G>A
Surrounding Variants
1 paper
NM_004076.5
p.L31P
c.92T>C
1 paper
NM_004076.5
p.S42L
c.125C>T
1 paper
NM_004076.5
p.E44K
c.130G>A
2 papers
NM_004076.5
p.C45S
c.134G>C
1 paper
NM_004076.5
p.D50N
c.148G>A
1 paper
NM_004076.5
p.Q60H
c.180A>C
1 paper
NM_004076.5
p.Q60H
c.180A>T
2 papers
NM_004076.5
p.S63P
c.187T>C
1 paper
NM_004076.5
p.P65Splc
c.194+1G>C
2 papers
NM_004076.5
p.P65Splc
c.194+1G>T
1 paper
NM_004076.5
p.P65Splc
c.194+2T>G
1 paper
NM_004076.5
p.P65Splc
c.194+120C>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."