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.S51A

c.151T>G

Surrounding Variants

1 paper

NM_006258.4

p.S51L

c.152C>T

1 paper

NM_006258.4

p.K48R

c.143A>G

1 paper

NM_006258.4

p.P55R

c.164C>G

1 paper

NM_006258.4

p.E45K

c.133G>A

1 paper

NM_006258.4

p.K41M

c.122A>T

1 paper

NM_006258.4

p.K41E

c.121A>G

2 papers

NM_006258.4

p.Q61L

c.182A>T

1 paper

NM_006258.4

p.Q40*

c.118C>T

1 paper

NM_006258.4

p.Q63K

c.187C>A

1 paper

NM_006258.4

p.S64C

c.190A>T

1 paper

NM_006258.4

p.S64N

c.191G>A

1 paper

NM_006258.4

p.S64T

c.191G>C