Varaico: Literature-Extracted Genetic Variants

Gene:PRKG2
Variant:p.D544Y

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
1 paper
NM_006259.3
p.D544Y
c.1630G>T
Surrounding Variants
2 papers
NM_006259.3
p.R545Splc
c.1634+1G>T
1 paper
NM_006259.3
p.G536insFs
c.1606_1607ins5
1 paper
NM_006259.3
p.L534*
c.1601T>G
1 paper
NM_006259.3
p.L534*
c.1601T>A
1 paper
NM_006259.3
p.E531K
c.1591G>A
1 paper
NM_006259.3
p.D522G
c.1565A>G
1 paper
NM_006259.3
p.R518_T519insFs
c.1554_1555insA
1 paper
NM_006259.3
p.R518C
c.1552C>T
2 papers
NM_006259.3
p.R545Splc
c.1635-1G>C
2 papers
NM_006259.3
p.R545Splc
c.1635-1G>A
2 papers
NM_006259.3
p.V557I
c.1669G>A
1 paper
NM_006259.3
p.A563T
c.1687G>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."