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.A1765S

c.5293G>T

Surrounding Variants

1 paper

NM_016341.4

p.A1765T

c.5293G>A

2 papers

NM_016341.4

p.R1767H

c.5300G>A

1 paper

NM_016341.4

p.S1759L

c.5276C>T

1 paper

NM_016341.4

p.R1771M

c.5312G>T

1 paper

NM_016341.4

p.H1756N

c.5266C>A

1 paper

NM_016341.4

p.K1753insFs

c.5258dupA

11 papers

NM_016341.4

p.T1777I

c.5330C>T

1 paper

NM_016341.4

p.I1748N

c.5243T>A

1 paper

NM_016341.4

p.T1743M

c.5228C>T

2 papers

NM_016341.4

p.Y1788insFs

c.5363dupA

3 papers

NM_016341.4

p.Y1788*

c.5364C>A

3 papers

NM_016341.4

p.Y1788*

c.5364C>G