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

8 papers

NM_001165979.2

p.Q712*

c.2134C>T

NM_016341.4

p.Q1020*

c.3058C>T

Surrounding Variants

1 paper

NM_016341.4

p.L1030F

c.3088C>T

1 paper

NM_016341.4

p.Y1031_Q1032delFs

c.3093_3096del4

1 paper

NM_016341.4

p.R1007G

c.3019A>G

2 papers

NM_016341.4

p.S1000N

c.2999G>A

2 papers

NM_016341.4

p.H987R

c.2960A>G

1 paper

NM_016341.4

p.Q959R

c.2876A>G

1 paper

NM_016341.4

p.E933K

c.2797G>A

2 papers

NM_016341.4

p.G927*

c.2779G>T

2 papers

NM_016341.4

p.G924S

c.2770G>A

1 paper

NM_016341.4

p.G918R

c.2752G>A

1 paper

NM_016341.4

p.G918R

c.2752G>C

1 paper

NM_016341.4

p.V910I

c.2728G>A