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

6 papers

NM_006258.4

p.H509Y

c.1525C>T

NM_001098512.3

p.H494Y

c.1480C>T

Surrounding Variants

1 paper

NM_006258.4

p.Y512N

c.1534T>A

1 paper

NM_006258.4

p.A513A

c.1539C>A

1 paper

NM_006258.4

p.L500F

c.1498C>T

1 paper

NM_006258.4

p.H491Q

c.1473T>A

1 paper

NM_001098512.3

p.Y474F

c.1421A>T

1 paper

NM_006258.4

p.A488P

c.1462G>C

1 paper

NM_006258.4

p.V484L

c.1450G>C

1 paper

NM_006258.4

p.V484L

c.1450G>T

1 paper

NM_001098512.3

p.T460A

c.1378A>G

1 paper

NM_006258.4

p.S470L

c.1409C>T

1 paper

NM_006258.4

p.G469R

c.1405G>C

1 paper

NM_006258.4

p.D517delFs

c.1551delT