Varaico: Literature-Extracted Genetic Variants

PLCD1

117 papers

RefSeq Summary

This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bis...

Pfam Domains

PH_12aa 15–129UCSCPleckstrin homology domain

EF-hand_likeaa 204–289UCSCPhosphoinositide-specific phospholipase C, efhand-like

PI-PLC-Xaa 298–441UCSCPhosphatidylinositol-specific phospholipase C, X domain

PI-PLC-Yaa 492–607UCSCPhosphatidylinositol-specific phospholipase C, Y domain

C2aa 629–737UCSCC2 domain

Gene Aliases

HGNC Name

phospholipase C delta 1

HGNC Previous Name

phospholipase C, delta 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006225.4

p.R530*

c.1588C>T

Surrounding Variants

1 paper

NM_006225.4

p.F523C

c.1568T>G

1 paper

NM_006225.4

p.V502G

c.1505T>G

2 papers

NM_006225.4

p.D484G

c.1451A>G

1 paper

NM_006225.4

p.G545G

c.1635G>A

2 papers

NM_006225.4

p.R549G

c.1645A>G

1 paper

NM_006225.4

p.R549K

c.1646G>A

6 papers

NM_001130964.2

p.A574T

c.1720G>A

NM_006225.4

p.A553T

c.1657G>A

1 paper

NM_006225.4

p.E566E

c.1698G>A

1 paper

NM_006225.4

p.C572*

c.1716C>A

2 papers

NM_006225.4

p.P481L

c.1442C>T

1 paper

NM_006225.4

p.V477L

c.1429G>T

1 paper

NM_006225.4

p.V477L

c.1429G>C