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

1–12 of 54 variants

2 papers

NM_032726.4

p.R99C

c.295C>T

2 papers

NM_032726.4

p.V364M

c.1090G>A

2 papers

NM_032726.4

p.I520V

c.1558A>G

2 papers

NM_032726.4

p.C572*

c.1716C>A

1 paper

NM_032726.4

p.Q8Splc

c.22+9C>T

1 paper

NM_032726.4

p.R36G

c.106A>G

1 paper

NM_032726.4

p.Y37Y

c.111C>T

1 paper

NM_032726.4

p.L40F

c.118C>T

1 paper

NM_032726.4

p.H49N

c.145C>A

1 paper

NM_032726.4

p.S60I

c.179G>T

1 paper

NM_032726.4

p.D65N

c.193G>A

1 paper

NM_032726.4

p.R70H

c.209G>A