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.I386fs

c.1156_1157fs

Surrounding Variants

1 paper

NM_006225.4

p.V385insFs

c.1155dupC

1 paper

NM_006225.4

p.S388A

c.1162T>G

1 paper

NM_006225.4

p.E390G

c.1169A>G

1 paper

NM_006225.4

p.S381A

c.1141T>G

1 paper

NM_006225.4

p.E396K

c.1186G>A

1 paper

NM_006225.4

p.Q397*

c.1189C>T

2 papers

NM_006225.4

p.M412R

c.1235T>G

3 papers

NM_001130964.2

p.R437*

c.1309C>T

NM_006225.4

p.R416*

c.1246C>T

1 paper

NM_006225.4

p.L418L

c.1252C>T

1 paper

NM_001130964.2

p.D396N

c.1186G>A

2 papers

NM_006225.4

p.C367C

c.1101C>T

1 paper

NM_006225.4

p.H356L

c.1067A>T