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.V20G

c.59T>G

Surrounding Variants

1 paper

NM_016341.4

p.A22T

c.64G>A

1 paper

NM_016341.4

p.Q16L

c.47A>T

1 paper

NM_016341.4

p.V14delFs

c.42delG

1 paper

NM_016341.4

p.P13L

c.38C>T

1 paper

NM_016341.4

p.S29T

c.86G>C

1 paper

NM_016341.4

p.M6V

c.16A>G

1 paper

NM_016341.4

p.D35E

c.105C>A

1 paper

NM_016341.4

p.I36V

c.106A>G

1 paper

NM_016341.4

p.M1insFs

c.1_2insAT

1 paper

NM_016341.4

p.K40*

c.118A>T

1 paper

NM_016341.4

p.V44G

c.131T>G

1 paper

NM_016341.4

p.R46*

c.136C>T