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.T568I

c.1703C>T

Surrounding Variants

1 paper

NM_006258.4

p.L567P

c.1700T>C

1 paper

NM_006258.4

p.W557S

c.1670G>C

1 paper

NM_006258.4

p.S553L

c.1658C>T

1 paper

NM_006258.4

p.P537L

c.1610C>T

1 paper

NM_006258.4

p.C534fs

c.1600_1601fs

1 paper

NM_006258.4

p.C534_G535del2

c.1600_1604del6

1 paper

NM_006258.4

p.F533Y

c.1598T>A

1 paper

NM_006258.4

p.F533C

c.1598T>G

2 papers

NM_006258.4

p.C534delFs

c.1600delT

1 paper

NM_006258.4

p.T532fs

c.1594_1595fs

1 paper

NM_006258.4

p.D517delFs

c.1551delT

1 paper

NM_006258.4

p.A513A

c.1539C>A