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.K43E

c.127A>G

Surrounding Variants

1 paper

NM_006225.4

p.Y42C

c.125A>G

1 paper

NM_006225.4

p.Y42S

c.125A>C

1 paper

NM_006225.4

p.Y42D

c.124T>G

1 paper

NM_006225.4

p.Y42N

c.124T>A

3 papers

NM_006225.4

p.R40L

c.119G>T

1 paper

NM_006225.4

p.E46A

c.137A>C

1 paper

NM_006225.4

p.R38G

c.112A>G

1 paper

NM_006225.4

p.W36G

c.106T>G

2 papers

NM_006225.4

p.V31V

c.93G>A

1 paper

NM_006225.4

p.K30*

c.88A>T

1 paper

NM_006225.4

p.R56H

c.167G>A

1 paper

NM_006225.4

p.S26R

c.78C>G