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.S711F

c.2132C>T

Surrounding Variants

2 papers

NM_006225.4

p.S710F

c.2129C>T

1 paper

NM_006225.4

p.D708G

c.2123A>G

1 paper

NM_006225.4

p.D708Y

c.2122G>T

1 paper

NM_006225.4

p.E705del1

c.2113_2114delTTC

1 paper

NM_006225.4

p.D706G

c.2117A>G

1 paper

NM_006225.4

p.S719R

c.2155A>C

1 paper

NM_006225.4

p.S719R

c.2157T>G

1 paper

NM_006225.4

p.S719R

c.2157T>A

1 paper

NM_006225.4

p.K727K

c.2181G>A

1 paper

NM_006225.4

p.A689A

c.2067G>A

1 paper

NM_001130964.2

p.A710V

c.2129C>T

1 paper

NM_006225.4

p.R665W

c.1993C>T