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.G1443R

c.4327G>A

Surrounding Variants

2 papers

NM_016341.4

p.G1443R

c.4327G>C

1 paper

NM_016341.4

p.W1441R

c.4321T>A

1 paper

NM_016341.4

p.W1441R

c.4321T>C

1 paper

NM_016341.4

p.V1436delFs

c.4306delG

1 paper

NM_016341.4

p.R1434L

c.4301G>T

1 paper

NM_016341.4

p.P1461T

c.4381C>A

1 paper

NM_016341.4

p.R1471H

c.4412G>A

1 paper

NM_016341.4

p.F1474S

c.4421T>C

1 paper

NM_016341.4

p.I1481del1

c.4441_4443delATC

6 papers

NM_016341.4

p.S1484L

c.4451C>T

1 paper

NM_016341.4

p.R1495*

c.4483C>T

1 paper

NM_016341.4

p.R1495Q

c.4484G>A