Varaico: Literature-Extracted Genetic Variants

Gene:CRYBA4
Variant:p.N137K

CRYBA4

99 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 13–97UCSCBeta/Gamma crystallin
Crystallaa 106–194UCSCBeta/Gamma crystallin

Gene Aliases

HGNC Name

crystallin beta A4

HGNC Previous Name

crystallin, beta A4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001886.3
p.N137K
c.411T>A
Surrounding Variants
1 paper
NM_001886.3
p.N137S
c.410A>G
5 papers
NM_001886.3
p.E138G
c.413A>G
1 paper
NM_001886.3
p.G140R
c.418G>A
1 paper
NM_001886.3
p.S141F
c.422C>T
1 paper
NM_001886.3
p.F142L
c.424T>C
1 paper
NM_001886.3
p.F142L
c.426C>A
1 paper
NM_001886.3
p.F142L
c.426C>G
1 paper
NM_001886.3
p.M132V
c.394A>G
1 paper
NM_001886.3
p.H143Q
c.429C>A
1 paper
NM_001886.3
p.H143Q
c.429C>G
1 paper
NM_001886.3
p.V144I
c.430G>A
1 paper
NM_001886.3
p.S146A
c.436T>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."