Varaico: Literature-Extracted Genetic Variants

PLCB4

152 papers

RefSeq Summary

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and pla...

Pfam Domains

PH_14aa 12–140UCSCPH domain

PLCB1-4-like_EFhaa 147–217UCSCPhosphoinositide phospholipase C beta1-4-like EF-hand domain

PI-PLC-Xaa 315–464UCSCPhosphatidylinositol-specific phospholipase C, X domain

PI-PLC-Yaa 577–691UCSCPhosphatidylinositol-specific phospholipase C, Y domain

C2aa 713–814UCSCC2 domain

PLC-beta_Caa 924–1180UCSCPLC-beta C terminal

Gene Aliases

HGNC Name

phospholipase C beta 4

HGNC Previous Name

phospholipase C, beta 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001377142.1

p.P451L

c.1352C>T

Surrounding Variants

1 paper

NM_001377142.1

p.D453N

c.1357G>A

2 papers

NM_001377142.1

p.P449S

c.1345C>T

1 paper

NM_001377142.1

p.K455R

c.1364A>G

1 paper

NM_001377142.1

p.E470V

c.1409A>T

1 paper

NM_001377142.1

p.G484A

c.1451G>C

1 paper

NM_001377142.1

p.S488A

c.1462T>G

1 paper

NM_001377142.1

p.E502K

c.1504G>A

1 paper

NM_001377142.1

p.S421delFs

c.1262delC

1 paper

NM_001377142.1

p.S413Splc

c.1238+24A>T

2 papers

NM_001377142.1

p.S413Splc

c.1238+1G>C

1 paper

NM_001377142.1

p.Y402C

c.1205A>G

1 paper

NM_001377142.1

p.Q390Q

c.1170A>G