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.E472D

c.1416A>T

Surrounding Variants

1 paper

NM_016341.4

p.E472D

c.1416A>C

1 paper

NM_016341.4

p.E472V

c.1415A>T

6 papers

NM_016341.4

p.S469T

c.1405T>A

3 papers

NM_016341.4

p.T467I

c.1400C>T

1 paper

NM_016341.4

p.Q464L

c.1391A>T

1 paper

NM_016341.4

p.I462T

c.1385T>C

1 paper

NM_016341.4

p.T460I

c.1379C>T

1 paper

NM_016341.4

p.T486insFs

c.1456dupA

1 paper

NM_016341.4

p.R459M

c.1376G>T

1 paper

NM_016341.4

p.R454C

c.1360C>T

10 papers

NM_001165979.2

p.R185*

c.553C>T

NM_016341.4

p.R493*

c.1477C>T

1 paper

NM_016341.4

p.E452*

c.1354G>T