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

11 papers

NM_016341.4

p.R548L

c.1643G>T

Surrounding Variants

1 paper

NM_016341.4

p.R548H

c.1643G>A

1 paper

NM_016341.4

p.L551F

c.1653G>C

1 paper

NM_016341.4

p.L551F

c.1653G>T

1 paper

NM_016341.4

p.R561Q

c.1682G>A

1 paper

NM_016341.4

p.P566S

c.1696C>T

1 paper

NM_016341.4

p.I523V

c.1567A>G

1 paper

NM_016341.4

p.E521Q

c.1561G>C

1 paper

NM_016341.4

p.A516V

c.1547C>T

1 paper

NM_016341.4

p.S580S

c.1740A>C

1 paper

NM_016341.4

p.S582L

c.1745C>T

1 paper

NM_016341.4

p.S514G

c.1540A>G

1 paper

NM_016341.4

p.L511F

c.1531C>T