Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA1
Variant:p.K131N

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.K131N
c.393G>T
Surrounding Variants
1 paper
NM_005208.5
p.K131N
c.393G>C
1 paper
NM_005208.5
p.N133D
c.397A>G
1 paper
NM_005208.5
p.F129_F134del6
c.385_401del18
1 paper
NM_005208.5
p.M126_T127del0
c.376_381del6
2 papers
NM_005208.5
p.E123K
c.367G>A
1 paper
NM_005208.5
p.N120D
c.358A>G
4 papers
NM_005208.5
p.G152G
c.456C>T
1 paper
NM_005208.5
p.N155D
c.463A>G
1 paper
NM_005208.5
p.E157K
c.469G>A
1 paper
NM_005208.5
p.V158L
c.472G>C
5 papers
NM_005208.5
p.G159S
c.475G>A
1 paper
NM_005208.5
p.M161V
c.481A>G
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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."