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.A855T

c.2563G>A

Surrounding Variants

1 paper

NM_016341.4

p.Q859fs

c.2575_2576fs

1 paper

NM_016341.4

p.P847L

c.2540C>T

1 paper

NM_016341.4

p.A865fs

c.2593_2594fs

1 paper

NM_016341.4

p.G842E

c.2525G>A

3 papers

NM_016341.4

p.F839insFs

c.2516_2517insT

1 paper

NM_016341.4

p.Q836L

c.2507A>T

1 paper

NM_016341.4

p.T874S

c.2620A>T

1 paper

NM_016341.4

p.Q836fs

c.2506_2507fs

1 paper

NM_016341.4

p.Q836delFs

c.2506delC

1 paper

NM_016341.4

p.D819G

c.2456A>G

1 paper

NM_016341.4

p.D819N

c.2455G>A

2 papers

NM_016341.4

p.T892insFs

c.2674_2675dupAC