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

1–12 of 372 variants

22 papers

NM_016341.4

p.H1927R

c.5780A>G

14 papers

NM_016341.4

p.R1575P

c.4724G>C

11 papers

NM_016341.4

p.R548L

c.1643G>T

11 papers

NM_016341.4

p.T1777I

c.5330C>T

9 papers

NM_016341.4

p.R321*

c.961C>T

9 papers

NM_016341.4

p.R493*

c.1477C>T

7 papers

NM_016341.4

p.Q1020*

c.3058C>T

6 papers

NM_016341.4

p.S469T

c.1405T>A

6 papers

NM_016341.4

p.R1116*

c.3346C>T

6 papers

NM_016341.4

p.S1484L

c.4451C>T

5 papers

NM_016341.4

p.R1246*

c.3736C>T

4 papers

NM_016341.4

p.I1081M

c.3243A>G