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

1–12 of 188 variants

7 papers

NM_000933.4

p.R621H

c.1862G>A

6 papers

NM_001377142.1

p.E358V

c.1073A>T

5 papers

NM_000933.4

p.R621C

c.1861C>T

4 papers

NM_001377142.1

p.A21T

c.61G>A

4 papers

NM_001377142.1

p.N329S

c.986A>G

4 papers

NM_001377142.1

p.G339R

c.1015G>A

4 papers

NM_001377142.1

p.G339R

c.1015G>C

4 papers

NM_001377142.1

p.E358Q

c.1072G>C

4 papers

NM_001377142.1

p.D360V

c.1079A>T

4 papers

NM_000933.4

p.Y623C

c.1868A>G

3 papers

NM_001377142.1

p.H328R

c.983A>G

3 papers

NM_001377142.1

p.D360N

c.1078G>A