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_000933.4

p.Y623C

c.1868A>G

Surrounding Variants

7 papers

NM_000933.4

p.R621H

c.1862G>A

NM_001377142.1

p.R633H

c.1898G>A

2 papers

NM_000933.4

p.R621L

c.1862G>T

5 papers

NM_000933.4

p.R621C

c.1861C>T

1 paper

NM_001377142.1

p.Q630Fs

c.1888delinsTTFs

1 paper

NM_001377142.1

p.Q630delins

c.1888_1889delinsTT

2 papers

NM_001377142.1

p.D642N

c.1924G>A

1 paper

NM_000933.4

p.D630Y

c.1888G>T

1 paper

NM_001377142.1

p.S643F

c.1928C>T

1 paper

NM_001377142.1

p.I650L

c.1948A>C

1 paper

NM_000933.4

p.M646L

c.1936A>T

1 paper

NM_001377142.1

p.M658I

c.1974G>A

1 paper

NM_001377142.1

p.M658I

c.1974G>C