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

1–12 of 122 variants

14 papers

NM_006225.4

p.R257H

c.770G>A

10 papers

NM_006225.4

p.S460L

c.1379C>T

8 papers

NM_006225.4

p.S745L

c.2234C>T

5 papers

NM_006225.4

p.L437L

c.1309C>T

4 papers

NM_006225.4

p.E464K

c.1390G>A

4 papers

NM_001130964.2

p.A574T

c.1720G>A

3 papers

NM_006225.4

p.R40L

c.119G>T

3 papers

NM_006225.4

p.E455K

c.1363G>A

3 papers

NM_006225.4

p.E462K

c.1384G>A

3 papers

NM_006225.4

p.A553T

c.1657G>A

2 papers

NM_006225.4

p.V31V

c.93G>A

2 papers

NM_006225.4

p.I69I

c.207C>A