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.P382delFs

c.1146delG

Surrounding Variants

1 paper

NM_016341.4

p.P382P

c.1146G>A

1 paper

NM_016341.4

p.S383*

c.1148C>A

3 papers

NM_016341.4

p.S383*

c.1148C>G

1 paper

NM_016341.4

p.P381fs

c.1141_1142fs

1 paper

NM_016341.4

p.D390G

c.1169A>G

1 paper

NM_016341.4

p.R394C

c.1180C>T

1 paper

NM_016341.4

p.R394P

c.1181G>C

1 paper

NM_016341.4

p.R394R

c.1182T>A

1 paper

NM_016341.4

p.W361R

c.1081T>C

1 paper

NM_016341.4

p.A360_W361delFs

c.1079_1083del5

1 paper

NM_016341.4

p.A346A

c.1038A>G

1 paper

NM_016341.4

p.Y341C

c.1022A>G