Varaico: Literature-Extracted Genetic Variants

Gene:POPDC1
Variant:p.P202A

POPDC1

68 papers

RefSeq Summary

This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in develo...

Pfam Domains

POPDC1-3aa 40–267UCSCPOPDC1-3

Gene Aliases

HGNC Name

popeye domain cAMP effector 1

HGNC Previous Symbol

BVES

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001199563.2
p.P202A
c.604C>G
Surrounding Variants
1 paper
NM_001199563.2
p.P202L
c.605C>T
23 papers
NM_001199563.2
p.S201F
c.602C>T
3 papers
NM_001199563.2
p.E203A
c.608A>C
5 papers
NM_001199563.2
p.D200A
c.599A>C
4 papers
NM_001199563.2
p.I193S
c.578T>G
1 paper
NM_001199563.2
p.N192D
c.574A>G
1 paper
NM_001199563.2
p.V183F
c.547G>T
1 paper
NM_001199563.2
p.K180Splc
c.540-80G>A
1 paper
NM_001199563.2
p.S174T
c.521G>C
1 paper
NM_001199563.2
p.R172H
c.515G>A
1 paper
NM_001199563.2
p.R172C
c.514C>T
1 paper
NM_001199563.2
p.Q159R
c.476A>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."