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.R1093_G1094Splc

c.3279+1G>T

Surrounding Variants

1 paper

NM_016341.4

p.K1085_K1086Fs

c.3255_3256delinsTFs

4 papers

NM_016341.4

p.I1081M

c.3243A>G

1 paper

NM_016341.4

p.L1079_T1083del5

c.3235_3248del15

1 paper

NM_016341.4

p.N1077S

c.3230A>G

1 paper

NM_016341.4

p.N1067fs

c.3199_3200fs

1 paper

NM_016341.4

p.N1067delFs

c.3199delA

1 paper

NM_016341.4

p.A1065E

c.3194C>A

2 papers

NM_016341.4

p.R1057*

c.3169C>T

1 paper

NM_016341.4

p.G1050C

c.3148G>T

1 paper

NM_016341.4

p.A1045S

c.3133G>T

1 paper

NM_016341.4

p.R1036W

c.3106C>T

1 paper

NM_016341.4

p.G1035*

c.3103G>T