Varaico: Literature-Extracted Genetic Variants

Gene:ZNRD2
Variant:p.C53S

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
10 papers
NM_006396.3
p.C53S
c.157T>A
Surrounding Variants
1 paper
NM_006396.3
p.A54V
c.161C>T
1 paper
NM_006396.3
p.D55delFs
c.165delC
2 papers
NM_006396.3
p.G57_T58Splc
c.171+1G>A
1 paper
NM_006396.3
p.D32G
c.95A>G
1 paper
NM_006396.3
p.E29E
c.87G>A
1 paper
NM_006396.3
p.R28L
c.83G>T
1 paper
NM_006396.3
p.R27Q
c.80G>A
8 papers
NM_006396.3
p.R27*
c.79C>T
1 paper
NM_006396.3
p.A26E
c.77C>A
3 papers
NM_006396.3
p.L24L
c.70C>T
1 paper
NM_006396.3
p.K22M
c.65A>T
1 paper
NM_006396.3
p.K22Q
c.64A>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."