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

Selected Variant

1 paper

NM_133373.5

p.E507K

c.1519G>A

Surrounding Variants

1 paper

NM_133373.5

p.E506K

c.1516G>A

1 paper

NM_133373.5

p.E503del1

c.1507_1508delCTC

1 paper

NM_133373.5

p.E509_E510del1

c.1527_1529delTCT

1 paper

NM_133373.5

p.E511del1

c.1531_1532delCTC

2 papers

NM_133373.5

p.A515V

c.1544C>T

1 paper

NM_133373.5

p.E527*

c.1579G>T

1 paper

NM_133373.5

p.R541insFs

c.1621_1622insG

1 paper

NM_133373.5

p.R541insFs

c.1622_1623insT

2 papers

NM_133373.5

p.R541fs

c.1621_1622fs

1 paper

NM_133373.5

p.R541_T542insFs

c.1623_1624insG

1 paper

NM_133373.5

p.R568W

c.1702C>T

1 paper

NM_133373.5

p.G632E

c.1895G>A