Varaico: Literature-Extracted Genetic Variants

PLCD4

48 papers

RefSeq Summary

This gene encodes a member of the delta class of phospholipase C enzymes. Phospholipase C enzymes play a critical role in many cellular processes by hydrolyzing phosphatidylinositol 4,5-bisphosphate i...

Pfam Domains

PHaa 17–124UCSCPH domain

EF-hand_5aa 139–163UCSCEF hand

EF-hand_likeaa 198–283UCSCPhosphoinositide-specific phospholipase C, efhand-like

PI-PLC-Xaa 292–436UCSCPhosphatidylinositol-specific phospholipase C, X domain

PI-PLC-Yaa 493–607UCSCPhosphatidylinositol-specific phospholipase C, Y domain

C2aa 627–736UCSCC2 domain

Gene Aliases

HGNC Name

phospholipase C delta 4

HGNC Previous Name

phospholipase C, delta 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032726.4

p.L629F

c.1885C>T

Surrounding Variants

2 papers

NM_032726.4

p.C572*

c.1716C>A

1 paper

NM_032726.4

p.I520T

c.1559T>C

2 papers

NM_032726.4

p.I520V

c.1558A>G

1 paper

NM_032726.4

p.F508del1

c.1522_1523delTTC

1 paper

NM_032726.4

p.R506C

c.1516C>T

1 paper

NM_032726.4

p.L500F

c.1500G>C

1 paper

NM_032726.4

p.L500F

c.1500G>T

1 paper

NM_032726.4

p.P694H

c.2081C>A

1 paper

NM_032726.4

p.M698_L699insFs

c.2092_2095dup4

1 paper

NM_032726.4

p.A697Fs

c.2091delinsCCATGFs

1 paper

NM_032726.4

p.M698fs

c.2092_2093fs

1 paper

NM_032726.4

p.L699fs

c.2095_2096fs