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.I29insFs

c.87dupC

Surrounding Variants

1 paper

NM_000932.5

p.A10V

c.29C>T

1 paper

NM_000932.5

p.R38W

c.112C>T

1 paper

NM_000932.5

p.L40L

c.118C>T

1 paper

NM_000932.5

p.R44C

c.130C>T

1 paper

NM_000932.5

p.P47R

c.140C>G

1 paper

NM_000932.5

p.F51del1

c.151_152delTTC

1 paper

NM_000932.5

p.T55K

c.164C>A

1 paper

NM_000932.5

p.M59I

c.177G>A

1 paper

NM_000932.5

p.M59I

c.177G>C

1 paper

NM_000932.5

p.M59I

c.177G>T

1 paper

NM_000932.5

p.M59_E60Splc

c.177+12C>T

1 paper

NM_000932.5

p.T63_I66del0

c.188_196del9