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

5 papers

NM_000932.5

p.A878S

c.2632G>T

Surrounding Variants

2 papers

NM_000932.5

p.A878T

c.2632G>A

1 paper

NM_000932.5

p.A878G

c.2633C>G

1 paper

NM_000932.5

p.S867N

c.2600G>A

9 papers

NM_000932.5

p.S845L

c.2534C>T

1 paper

NM_000932.5

p.S845_P849delFs

c.2535_2545del11

1 paper

NM_000932.5

p.A844delFs

c.2530_2531delGC

1 paper

NM_000932.5

p.T842P

c.2524A>C

1 paper

NM_000932.5

p.G819R

c.2455G>A

1 paper

NM_000932.5

p.G819R

c.2455G>C

2 papers

NM_000932.5

p.R809Q

c.2426G>A

2 papers

NM_000932.5

p.V806I

c.2416G>A

1 paper

NM_000932.5

p.E801*

c.2401G>T