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.G339R

c.1015G>C

Surrounding Variants

4 papers

NM_001377142.1

p.G339R

c.1015G>A

1 paper

NM_001377142.1

p.G338S

c.1012G>A

1 paper

NM_001377142.1

p.G338delFs

c.1013delG

1 paper

NM_001377142.1

p.S342L

c.1025C>T

1 paper

NM_001377142.1

p.S342S

c.1026G>A

1 paper

NM_001377142.1

p.R335R

c.1003A>C

1 paper

NM_001377142.1

p.Y331H

c.991T>C

1 paper

NM_001377142.1

p.N329T

c.986A>C

4 papers

NM_001377142.1

p.N329S

c.986A>G

3 papers

NM_001377142.1

p.H328R

c.983A>G

1 paper

NM_001377142.1

p.L351L

c.1051C>T

1 paper

NM_001377142.1

p.S326F

c.977C>T