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

6 papers

NM_001377142.1

p.E358V

c.1073A>T

Surrounding Variants

2 papers

NM_001377142.1

p.E358G

c.1073A>G

4 papers

NM_001377142.1

p.E358Q

c.1072G>C

1 paper

NM_001377142.1

p.V357A

c.1070T>C

3 papers

NM_001377142.1

p.D360N

c.1078G>A

4 papers

NM_001377142.1

p.D360V

c.1079A>T

1 paper

NM_001377142.1

p.D360E

c.1080C>A

1 paper

NM_001377142.1

p.D360E

c.1080C>G

1 paper

NM_001377142.1

p.T381T

c.1143A>C

1 paper

NM_001377142.1

p.Q390Q

c.1170A>G

1 paper

NM_001377142.1

p.Y402C

c.1205A>G

2 papers

NM_001377142.1

p.S413Splc

c.1238+1G>C

1 paper

NM_001377142.1

p.S413Splc

c.1238+24A>T