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.L1160V

c.3478T>G

Surrounding Variants

1 paper

NM_016341.4

p.T1164M

c.3491C>T

1 paper

NM_016341.4

p.T1153N

c.3458C>A

1 paper

NM_016341.4

p.P1167S

c.3499C>T

1 paper

NM_016341.4

p.S1151T

c.3451T>A

1 paper

NM_016341.4

p.S1177F

c.3530C>T

1 paper

NM_016341.4

p.A1138T

c.3412G>A

1 paper

NM_016341.4

p.V1134A

c.3401T>C

1 paper

NM_016341.4

p.G1120D

c.3359G>A

1 paper

NM_016341.4

p.R1118Q

c.3353G>A

1 paper

NM_016341.4

p.R1116G

c.3346C>G

6 papers

NM_016341.4

p.R1116*

c.3346C>T

1 paper

NM_016341.4

p.A1105fs

c.3313_3314fs