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

4 papers

NM_001377142.1

p.A21T

c.61G>A

Surrounding Variants

1 paper

NM_001377142.1

p.A21E

c.62C>A

1 paper

NM_001377142.1

p.G20_V22del3

c.58_65del9

1 paper

NM_001377142.1

p.Q18E

c.52C>G

1 paper

NM_001377142.1

p.E27insFs

c.79dupG

1 paper

NM_001377142.1

p.E27Q

c.79G>C

1 paper

NM_001377142.1

p.P14S

c.40C>T

1 paper

NM_001377142.1

p.E12K

c.34G>A

1 paper

NM_001377142.1

p.F7_N8del1

c.20_22delTTA

1 paper

NM_001377142.1

p.P4R

c.11C>G

1 paper

NM_001377142.1

p.M1I

c.3G>C