Varaico: Literature-Extracted Genetic Variants

PLCB3

107 papers

RefSeq Summary

This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosp...

Pfam Domains

PH_14aa 17–146UCSCPH domain

PLCB1-4-like_EFhaa 153–221UCSCPhosphoinositide phospholipase C beta1-4-like EF-hand domain

PI-PLC-Xaa 319–469UCSCPhosphatidylinositol-specific phospholipase C, X domain

PI-PLC-Yaa 590–704UCSCPhosphatidylinositol-specific phospholipase C, Y domain

Gene Aliases

HGNC Name

phospholipase C beta 3

HGNC Previous Name

phospholipase C, beta 3 (phosphatidylinositol-specific)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000932.5

p.S911R

c.2733C>A

Surrounding Variants

1 paper

NM_000932.5

p.S911R

c.2733C>G

1 paper

NM_000932.5

p.S911R

c.2731A>C

1 paper

NM_000932.5

p.P912_S916delFs

c.2736_2746del11

1 paper

NM_000932.5

p.S911delFs

c.2731_2732delAG

1 paper

NM_000932.5

p.S911del1

c.2731_2732delAGC

1 paper

NM_000932.5

p.L913_S916del0

c.2738_2746del9

1 paper

NM_000932.5

p.T909fs

c.2725_2726fs

1 paper

NM_000932.5

p.T909P

c.2725A>C

1 paper

NM_000932.5

p.T909delFs

c.2725delA

1 paper

NM_000932.5

p.P908L

c.2723C>T

1 paper

NM_000932.5

p.R919G

c.2755C>G

1 paper

NM_000932.5

p.R919W

c.2755C>T