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

3 papers

NM_001130964.2

p.C209R

c.625T>C

NM_006225.4

p.C188R

c.562T>C

Surrounding Variants

1 paper

NM_006225.4

p.Q192*

c.574C>T

1 paper

NM_006225.4

p.S195Y

c.584C>A

1 paper

NM_006225.4

p.E199K

c.595G>A

1 paper

NM_006225.4

p.Y205C

c.614A>G

1 paper

NM_006225.4

p.R211W

c.631C>T

1 paper

NM_006225.4

p.R216delFs

c.646_647delCG

1 paper

NM_006225.4

p.E220K

c.658G>A

1 paper

NM_006225.4

p.E226K

c.676G>A

1 paper

NM_006225.4

p.S179R

c.537C>G

1 paper

NM_006225.4

p.D178N

c.532G>A

2 papers

NM_006225.4

p.D231N

c.691G>A

1 paper

NM_006225.4

p.K170N

c.510G>C