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.C106F

c.317G>T

Surrounding Variants

1 paper

NM_016341.4

p.N105N

c.315C>T

1 paper

NM_016341.4

p.L117R

c.350T>G

1 paper

NM_016341.4

p.P118L

c.353C>T

1 paper

NM_016341.4

p.E92*

c.274G>T

1 paper

NM_016341.4

p.E84V

c.251A>T

1 paper

NM_016341.4

p.A130S

c.388G>T

1 paper

NM_016341.4

p.E78D

c.234G>C

1 paper

NM_016341.4

p.E78D

c.234G>T

1 paper

NM_016341.4

p.A76V

c.227C>T

1 paper

NM_016341.4

p.G139R

c.415G>C

1 paper

NM_016341.4

p.L144M

c.430C>A

1 paper

NM_016341.4

p.L144R

c.431T>G