Varaico: Literature-Extracted Genetic Variants

Gene:ZNRD2
Variant:p.K133E

ZNRD2

337 papers

RefSeq Summary

This antigen is recognized by a subset of anti-centromere antibodies from patients with scleroderma and/or Sjogren's syndrome. Subcellular localization has not yet been established. [provided by RefSe...

Pfam Domains

Auto_anti-p27aa 1–37UCSCSjogren's syndrome/scleroderma autoantigen 1 (Autoantigen p27)

Gene Aliases

HGNC Name

zinc ribbon domain containing 2

HGNC Previous Symbol

SSSCA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006396.3
p.K133E
c.397A>G
Surrounding Variants
1 paper
NM_006396.3
p.A135A
c.405C>A
1 paper
NM_006396.3
p.P138fs
c.412_413fs
1 paper
NM_006396.3
p.A140G
c.419C>G
1 paper
NM_006396.3
p.C125insFs
c.373_374insA
1 paper
NM_006396.3
p.E123E
c.369G>A
1 paper
NM_006396.3
p.V119A
c.356T>C
1 paper
NM_006396.3
p.Q116H
c.348G>C
1 paper
NM_006396.3
p.Q116K
c.346C>A
2 papers
NM_006396.3
p.A114S
c.340G>T
2 papers
NM_006396.3
p.T153I
c.458C>T
6 papers
NM_006396.3
p.L109R
c.326T>G
1 paper
NM_006396.3
p.L157P
c.470T>C
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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."