Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.L232P

CRYBB1

191 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 60–142UCSCBeta/Gamma crystallin
Crystallaa 150–232UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta B1

HGNC Previous Name

crystallin, beta B1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001887.4
p.L232P
c.695T>C
Surrounding Variants
13 papers
NM_001887.4
p.R233H
c.698G>A
1 paper
NM_001887.4
p.R231C
c.691C>T
1 paper
NM_001887.4
p.R233del1
c.697_699delACG
1 paper
NM_001887.4
p.R230H
c.689G>A
3 papers
NM_001887.4
p.R230C
c.688C>T
1 paper
NM_001887.4
p.S228Y
c.683C>A
18 papers
NM_001887.4
p.S228P
c.682T>C
1 paper
NM_001887.4
p.S228T
c.682T>A
5 papers
NM_001887.4
p.Q227*
c.679C>T
1 paper
NM_001887.4
p.L239L
c.717C>T
1 paper
NM_001887.4
p.P224insFs
c.670_671insA
1 paper
NM_001887.4
p.G241E
c.722G>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."