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.S1185Splc

c.3555-1316G>A

Surrounding Variants

2 papers

NM_016341.4

p.R1195W

c.3583C>T

3 papers

NM_016341.4

p.G1199S

c.3595G>A

3 papers

NM_016341.4

p.L1233P

c.3698T>C

1 paper

NM_016341.4

p.P1243L

c.3728C>T

5 papers

NM_016341.4

p.R1246*

c.3736C>T

1 paper

NM_016341.4

p.S1177F

c.3530C>T

1 paper

NM_016341.4

p.P1167S

c.3499C>T

1 paper

NM_016341.4

p.T1164M

c.3491C>T

1 paper

NM_016341.4

p.L1160V

c.3478T>G

1 paper

NM_016341.4

p.T1153N

c.3458C>A

1 paper

NM_016341.4

p.S1151T

c.3451T>A

1 paper

NM_016341.4

p.A1138T

c.3412G>A