Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.E197fs

CRYBA1

134 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 32–116UCSCBeta/Gamma crystallin
Crystallaa 125–213UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta A1

HGNC Previous Symbol

CRYB1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005208.5
p.E197fs
c.589_590fs
Surrounding Variants
2 papers
NM_005208.5
p.R196fs
c.586_587fs
2 papers
NM_005208.5
p.W198insFs
c.593_594insG
2 papers
NM_005208.5
p.W198delFs
c.593delG
4 papers
NM_005208.5
p.W198*
c.593G>A
3 papers
NM_005208.5
p.W198*
c.594G>A
2 papers
NM_005208.5
p.E197delFs
c.590_591delAG
2 papers
NM_005208.5
p.R196_E197delFs
c.588_591del4
2 papers
NM_005208.5
p.G199fs
c.595_596fs
1 paper
NM_005208.5
p.W195_R196del2
c.583_587del6
1 paper
NM_005208.5
p.S200fs
c.598_599fs
1 paper
NM_005208.5
p.Y192C
c.575A>G
1 paper
NM_005208.5
p.Q203delFs
c.607_608delCA
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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."