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

23 papers

NM_016341.4

p.H1927R

c.5780A>G

NM_001165979.2

p.H1619R

c.4856A>G

Surrounding Variants

1 paper

NM_016341.4

p.H1927N

c.5779C>A

1 paper

NM_016341.4

p.V1928I

c.5782G>A

1 paper

NM_016341.4

p.M1919T

c.5756T>C

1 paper

NM_016341.4

p.R1937C

c.5809C>T

1 paper

NM_016341.4

p.N1917S

c.5750A>G

1 paper

NM_016341.4

p.G1962E

c.5885G>A

4 papers

NM_016341.4

p.P1890L

c.5669C>T

1 paper

NM_001165979.2

p.P1575R

c.4724C>G

1 paper

NM_016341.4

p.V1881A

c.5642T>C

1 paper

NM_016341.4

p.S1877F

c.5630C>T

1 paper

NM_016341.4

p.L1863_M1866del4

c.5587_5597del12

1 paper

NM_016341.4

p.G1962E

c.5885G>A