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.E71D

c.213G>T

Surrounding Variants

1 paper

NM_006258.4

p.E71D

c.213G>C

1 paper

NM_006258.4

p.E71V

c.212A>T

1 paper

NM_006258.4

p.R73fs

c.217_218fs

1 paper

NM_006258.4

p.K75E

c.223A>G

1 paper

NM_006258.4

p.L68M

c.202T>A

1 paper

NM_006258.4

p.R76Q

c.227G>A

1 paper

NM_006258.4

p.A65V

c.194C>T

1 paper

NM_006258.4

p.S64N

c.191G>A

1 paper

NM_006258.4

p.S64T

c.191G>C

1 paper

NM_006258.4

p.S64C

c.190A>T

1 paper

NM_006258.4

p.I79N

c.236T>A

1 paper

NM_006258.4

p.S80A

c.238T>G