Varaico: Literature-Extracted Genetic Variants

Gene:CRYBB1
Variant:p.G203R

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.G203R
c.607G>C
Surrounding Variants
2 papers
NM_001887.4
p.G203R
c.607G>A
1 paper
NM_001887.4
p.R202H
c.605G>A
1 paper
NM_001887.4
p.Y201*
c.603C>G
1 paper
NM_001887.4
p.Y196_Y201ins2
c.588_602dup15
1 paper
NM_001887.4
p.Y201*
c.603C>A
3 papers
NM_001887.4
p.Y204*
c.612C>G
3 papers
NM_001887.4
p.Y204*
c.612C>A
1 paper
NM_001887.4
p.Y206*
c.618C>G
1 paper
NM_001887.4
p.Y206*
c.618C>A
1 paper
NM_001887.4
p.G211A
c.632G>C
1 paper
NM_001887.4
p.V194F
c.580G>T
1 paper
NM_001887.4
p.W219*
c.656G>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."