Varaico: Literature-Extracted Genetic Variants

Gene:POPDC2
Variant:p.T300I

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.T300I
c.899C>T
Surrounding Variants
2 papers
NM_001369919.2
p.A321T
c.961G>A
2 papers
NM_001369919.2
p.V270I
c.808G>A
1 paper
NM_001369919.2
p.D332N
c.994G>A
2 papers
NM_001369919.2
p.R263H
c.788G>A
2 papers
NM_001369919.2
p.R263C
c.787C>T
1 paper
NM_001369919.2
p.L245P
c.734T>C
1 paper
NM_001369919.2
p.D240N
c.718G>A
2 papers
NM_001369919.2
p.K217N
c.651A>T
1 paper
NM_001369919.2
p.R216L
c.647G>T
1 paper
NM_001369919.2
p.R216Q
c.647G>A
11 papers
NM_001369919.2
p.W188*
c.564G>A
11 papers
NM_001369919.2
p.W188*
c.563G>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."