Varaico: Literature-Extracted Genetic Variants

Gene:PRKG2
Variant:p.M180I

PRKG2

92 papers

RefSeq Summary

This gene encodes a protein that belongs to the serine/threonine protein kinase family of proteins. The encoded protein binds to and inhibits the activation of several receptor tyrosine kinases. The m...

Pfam Domains

cNMP_bindingaa 186–269UCSCCyclic nucleotide-binding domain
cNMP_bindingaa 304–393UCSCCyclic nucleotide-binding domain
Pkinaseaa 453–711UCSCProtein kinase domain

Gene Aliases

HGNC Name

protein kinase cGMP-dependent 2

HGNC Alias Symbols

cGKII; PRKGR2; PKG2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006259.3
p.M180I
c.540G>A
Surrounding Variants
2 papers
NM_006259.3
p.M180I
c.540G>T
2 papers
NM_006259.3
p.M180I
c.540G>C
1 paper
NM_006259.3
p.R187I
c.560G>T
1 paper
NM_006259.3
p.L169P
c.506T>C
4 papers
NM_006259.3
p.N164insFs
c.491dupA
8 papers
NM_006259.3
p.N164fs
c.490_491fs
1 paper
NM_006259.3
p.L163fs
c.487_488fs
1 paper
NM_006259.3
p.K220E
c.658A>G
1 paper
NM_006259.3
p.S223S
c.669C>A
1 paper
NM_006259.3
p.I225I
c.675C>T
1 paper
NM_006259.3
p.W228*
c.684G>A
1 paper
NM_006259.3
p.N239K
c.717T>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."