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.Q1351H

c.4053G>T

Surrounding Variants

1 paper

NM_016341.4

p.Q1351H

c.4053G>C

1 paper

NM_016341.4

p.I1346_L1347del1

c.4037_4039delTCC

1 paper

NM_016341.4

p.I1346_L1347del2

c.4036_4040del6

1 paper

NM_016341.4

p.V1334M

c.4000G>A

1 paper

NM_016341.4

p.F1322L

c.3966T>A

1 paper

NM_016341.4

p.F1322L

c.3966T>G

1 paper

NM_016341.4

p.F1322L

c.3964T>C

1 paper

NM_016341.4

p.A1303_S1306del4

c.3907_3917del12

1 paper

NM_016341.4

p.Q1295L

c.3884A>T

1 paper

NM_016341.4

p.S1292L

c.3875C>T

1 paper

NM_016341.4

p.L1283fs

c.3847_3848fs

1 paper

NM_016341.4

p.L1283fs

c.3847_3848fs