Varaico: Literature-Extracted Genetic Variants

Gene:POPDC2
Variant:p.P179A

POPDC2

43 papers

RefSeq Summary

This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle,...

Pfam Domains

POPDC1-3aa 25–251UCSCPOPDC1-3

Gene Aliases

HGNC Name

popeye domain cAMP effector 2

HGNC Alias Symbol

POP2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001369919.2
p.P179A
c.535C>G
Surrounding Variants
1 paper
NM_001369919.2
p.Q172_Y176del0
c.516_527del12
1 paper
NM_001369919.2
p.Q181R
c.542A>G
1 paper
NM_001369919.2
p.D184A
c.551A>C
11 papers
NM_001369919.2
p.W188*
c.563G>A
11 papers
NM_001369919.2
p.W188*
c.564G>A
2 papers
NM_001369919.2
p.R166H
c.497G>A
1 paper
NM_001369919.2
p.I154V
c.460A>G
1 paper
NM_001369919.2
p.P153S
c.457C>T
1 paper
NM_001369919.2
p.E151A
c.452A>C
1 paper
NM_001369919.2
p.E134K
c.400G>A
1 paper
NM_001369919.2
p.L110_K113del4
c.328_338del12
1 paper
NM_001369919.2
p.D109N
c.325G>A
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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."