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.G176C

c.526G>T

Surrounding Variants

1 paper

NM_006258.4

p.G178fs

c.532_533fs

1 paper

NM_006258.4

p.G178_K179delFs

c.534_535delAA

1 paper

NM_006258.4

p.C173fs

c.517_518fs

1 paper

NM_006258.4

p.C173delFs

c.518_519delGT

1 paper

NM_006258.4

p.V180A

c.539T>C

1 paper

NM_006258.4

p.F181L

c.541T>C

1 paper

NM_006258.4

p.F181L

c.543T>A

1 paper

NM_006258.4

p.F181L

c.543T>G

1 paper

NM_006258.4

p.G182E

c.545G>A

1 paper

NM_006258.4

p.K162K

c.486G>A

1 paper

NM_006258.4

p.G161R

c.481G>C

1 paper

NM_006258.4

p.D160Splc

c.479-2A>G