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.Y377H

c.1129T>C

Surrounding Variants

1 paper

NM_032726.4

p.A396T

c.1186G>A

1 paper

NM_032726.4

p.R397H

c.1190G>A

1 paper

NM_032726.4

p.E405K

c.1213G>A

2 papers

NM_032726.4

p.V364M

c.1090G>A

1 paper

NM_032726.4

p.L354Q

c.1061T>A

1 paper

NM_032726.4

p.G351R

c.1051G>A

1 paper

NM_032726.4

p.G351R

c.1051G>C

1 paper

NM_032726.4

p.W339*

c.1017G>A

1 paper

NM_032726.4

p.W339*

c.1016G>A

1 paper

NM_032726.4

p.A326T

c.976G>A

1 paper

NM_032726.4

p.K435E

c.1303A>G

1 paper

NM_032726.4

p.K435N

c.1305G>C