Varaico: Literature-Extracted Genetic Variants

PRKG1

266 papers

RefSeq Summary

Mammals have three different isoforms of cyclic GMP-dependent protein kinase (Ialpha, Ibeta, and II). These PRKG isoforms act as key mediators of the nitric oxide/cGMP signaling pathway and are import...

Pfam Domains

PKcGMP_CCaa 10–44UCSCCoiled-coil N-terminus of cGMP-dependent protein kinase

PKcGMP_CCaa 16–50UCSCCoiled-coil N-terminus of cGMP-dependent protein kinase

cNMP_bindingaa 121–204UCSCCyclic nucleotide-binding domain

cNMP_bindingaa 239–326UCSCCyclic nucleotide-binding domain

Pkinaseaa 360–619UCSCProtein kinase domain

Gene Aliases

HGNC Name

protein kinase cGMP-dependent 1

HGNC Previous Symbols

PRKGR1B; PRKG1B

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006258.4

p.E254D

c.762G>C

Surrounding Variants

2 papers

NM_006258.4

p.E254D

c.762G>T

1 paper

NM_006258.4

p.E254K

c.760G>A

2 papers

NM_006258.4

p.E253K

c.757G>A

1 paper

NM_006258.4

p.L248F

c.742C>T

2 papers

NM_006258.4

p.K247R

c.740A>G

2 papers

NM_001098512.3

p.V219I

c.655G>A

NM_006258.4

p.V234I

c.700G>A