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

1 paper

NM_006258.4

p.L4*

c.11T>A

Surrounding Variants

1 paper

NM_006258.4

p.L4F

c.12G>C

1 paper

NM_006258.4

p.T3T

c.9C>A

1 paper

NM_006258.4

p.R5P

c.14G>C

1 paper

NM_006258.4

p.D6N

c.16G>A

1 paper

NM_006258.4

p.G2A

c.5G>C

1 paper

NM_006258.4

p.Y9H

c.25T>C

1 paper

NM_006258.4

p.E16K

c.46G>A

2 papers

NM_006258.4

p.E17K

c.49G>A

1 paper

NM_006258.4

p.R19K

c.56G>A

1 paper

NM_006258.4

p.R21Q

c.62G>A

1 paper

NM_006258.4

p.E27K

c.79G>A

1 paper

NM_006258.4

p.E29K

c.85G>A