Varaico: Literature-Extracted Genetic Variants

PLCD3

43 papers

RefSeq Summary

This gene encodes a member of the phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-tri...

Pfam Domains

EF-hand_10aa 201–250UCSCEF hand

PI-PLC-Xaa 339–483UCSCPhosphatidylinositol-specific phospholipase C, X domain

PI-PLC-Yaa 528–642UCSCPhosphatidylinositol-specific phospholipase C, Y domain

C2aa 660–769UCSCC2 domain

Gene Aliases

HGNC Name

phospholipase C delta 3

HGNC Previous Name

phospholipase C, delta 3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 32 variants

2 papers

NM_133373.5

p.A515V

c.1544C>T

2 papers

NM_133373.5

p.R541fs

c.1621_1622fs

1 paper

NM_133373.5

p.A28V

c.83C>T

1 paper

NM_133373.5

p.G55S

c.163G>A

1 paper

NM_133373.5

p.G55S

c.163G>A

1 paper

NM_133373.5

p.R128C

c.382C>T

1 paper

NM_133373.5

p.G166S

c.496G>A

1 paper

NM_133373.5

p.R173C

c.517C>T

1 paper

NM_133373.5

p.D217G

c.650A>G

1 paper

NM_133373.5

p.D236N

c.706G>A

1 paper

NM_133373.5

p.S233_L238del0

c.699_713del15

1 paper

NM_133373.5

p.F246F

c.738C>T