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

2 papers

NM_016341.4

p.R321Q

c.962G>A

Surrounding Variants

9 papers

NM_016341.4

p.R321*

c.961C>T

2 papers

NM_016341.4

p.E320E

c.960G>A

1 paper

NM_016341.4

p.E312insFs

c.935dupA

1 paper

NM_016341.4

p.V340_Y341delFs

c.1020_1021delGT

1 paper

NM_016341.4

p.Y341C

c.1022A>G

1 paper

NM_016341.4

p.F296S

c.887T>C

1 paper

NM_016341.4

p.A346A

c.1038A>G

1 paper

NM_016341.4

p.K294R

c.881A>G

1 paper

NM_016341.4

p.A293V

c.878C>T

1 paper

NM_016341.4

p.Q291*

c.871C>T

1 paper

NM_016341.4

p.F287Y

c.860T>A

1 paper

NM_016341.4

p.A360_W361delFs

c.1079_1083del5