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

2 papers

NM_006225.4

p.E341G

c.1022A>G

Surrounding Variants

2 papers

NM_006225.4

p.E341A

c.1022A>C

1 paper

NM_006225.4

p.L342R

c.1025T>G

1 paper

NM_006225.4

p.R338L

c.1013G>T

2 papers

NM_006225.4

p.D346D

c.1038C>T

1 paper

NM_006225.4

p.K335R

c.1004A>G

1 paper

NM_006225.4

p.R331Q

c.992G>A

1 paper

NM_006225.4

p.H356L

c.1067A>T

2 papers

NM_006225.4

p.C367C

c.1101C>T

1 paper

NM_001130964.2

p.D396N

c.1186G>A

2 papers

NM_001130964.2

p.R352Q

c.1055G>A

NM_006225.4

p.R331Q

c.992G>A

1 paper

NM_006225.4

p.E327G

c.980A>G

1 paper

NM_006225.4

p.H311L

c.932A>T