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.G270W

c.808G>T

Surrounding Variants

1 paper

NM_006258.4

p.I264I

c.792C>T

2 papers

NM_006258.4

p.I264V

c.790A>G

1 paper

NM_006258.4

p.S277R

c.829A>C

1 paper

NM_006258.4

p.S277C

c.829A>T

3 papers

NM_006258.4

p.Y262Y

c.786T>C

1 paper

NM_006258.4

p.S277R

c.831C>A

1 paper

NM_006258.4

p.S277R

c.831C>G

1 paper

NM_006258.4

p.E261A

c.782A>C

1 paper

NM_001098512.3

p.G264R

c.790G>A

3 papers

NM_001098512.3

p.T265M

c.794C>T

NM_006258.4

p.T280M

c.839C>T

1 paper

NM_006258.4

p.T280T

c.840G>A

1 paper

NM_006258.4

p.E258K

c.772G>A