Varaico: Literature-Extracted Genetic Variants

PLCE1

352 papers

RefSeq Summary

This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol ...

Pfam Domains

RasGEFaa 534–740UCSCRasGEF domain

EF-hand_likeaa 1307–1365UCSCPhosphoinositide-specific phospholipase C, efhand-like

PI-PLC-Xaa 1378–1525UCSCPhosphatidylinositol-specific phospholipase C, X domain

PI-PLC-Yaa 1725–1828UCSCPhosphatidylinositol-specific phospholipase C, Y domain

C2aa 1854–1955UCSCC2 domain

RAaa 2119–2222UCSCRas association (RalGDS/AF-6) domain

Gene Aliases

HGNC Name

phospholipase C epsilon 1

HGNC Alias Symbols

KIAA1516; NPHS3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016341.4

p.I209insFs

c.625dupA

Surrounding Variants

1 paper

NM_016341.4

p.I209fs

c.625_626fs

1 paper

NM_016341.4

p.T203T

c.609C>T

3 papers

NM_016341.4

p.N215Y

c.643A>T

1 paper

NM_016341.4

p.S198L

c.593C>T

1 paper

NM_016341.4

p.L219I

c.655C>A

1 paper

NM_016341.4

p.G222R

c.664G>C

1 paper

NM_016341.4

p.V193I

c.577G>A

1 paper

NM_016341.4

p.K225E

c.673A>G

1 paper

NM_016341.4

p.Y230delFs

c.689_690delAT

1 paper

NM_016341.4

p.A232T

c.694G>A

1 paper

NM_016341.4

p.R184G

c.550A>G

1 paper

NM_016341.4

p.K236E

c.706A>G