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.Q245_D248del0

c.735_743del9

Surrounding Variants

1 paper

NM_000932.5

p.E244_Q245delFs

c.732_733delGC

1 paper

NM_000932.5

p.T242M

c.725C>T

1 paper

NM_000932.5

p.K253_R255delFs

c.758_765del8

1 paper

NM_000932.5

p.A235P

c.703G>C

1 paper

NM_000932.5

p.L310P

c.929T>C

1 paper

NM_000932.5

p.D318N

c.952G>A

3 papers

NM_000932.5

p.T337P

c.1009A>C

1 paper

NM_000932.5

p.I233Splc

c.698+4A>T

1 paper

NM_000932.5

p.K228N

c.684G>C

1 paper

NM_000932.5

p.K228N

c.684G>T

1 paper

NM_000932.5

p.L220R

c.659T>G

1 paper

NM_000932.5

p.I212insFs

c.635_636insGC