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.R630W

c.1888C>T

Surrounding Variants

1 paper

NM_006225.4

p.R630Q

c.1889G>A

1 paper

NM_006225.4

p.R634_V635Splc

c.1902+19G>A

1 paper

NM_006225.4

p.R609*

c.1825C>T

1 paper

NM_006225.4

p.S637L

c.1910C>T

1 paper

NM_006225.4

p.D587D

c.1761C>T

1 paper

NM_006225.4

p.K646_N647del2

c.1936_1940del6

1 paper

NM_006225.4

p.D653G

c.1958A>G

1 paper

NM_006225.4

p.R665W

c.1993C>T

1 paper

NM_001130964.2

p.A710V

c.2129C>T

1 paper

NM_006225.4

p.A689A

c.2067G>A

1 paper

NM_006225.4

p.D706G

c.2117A>G

1 paper

NM_006225.4

p.E705del1

c.2113_2114delTTC