Varaico: Literature-Extracted Genetic Variants

Gene:POPDC3

POPDC3

35 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 these ...

Pfam Domains

POPDC1-3aa 25–249UCSCPOPDC1-3

Gene Aliases

HGNC Name

popeye domain cAMP effector 3

HGNC Alias Symbols

POP3; MGC22671; bA355M14.1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
9 papers
NM_022361.5
p.L155H
c.464T>A
8 papers
NM_022361.5
p.L217F
c.651A>T
8 papers
NM_022361.5
p.L217F
c.651A>C
8 papers
NM_022361.5
p.R261Q
c.782G>A
5 papers
NM_022361.5
p.K154E
c.460A>G
4 papers
NM_022361.5
p.R162Splc
c.486-1G>A
2 papers
NM_022361.5
p.I77M
c.231A>G
2 papers
NM_022361.5
p.R162Splc
c.486-6T>A
2 papers
NM_022361.5
p.R287*
c.859C>T
1 paper
NM_022361.5
p.M1I
c.3G>A
1 paper
NM_022361.5
p.L7F
c.21A>T
1 paper
NM_022361.5
p.L7F
c.21A>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."