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.E496D

c.1488G>C

Surrounding Variants

1 paper

NM_000932.5

p.E496D

c.1488G>T

1 paper

NM_000932.5

p.S498_P506del9

c.1492_1517del27

1 paper

NM_000932.5

p.A500S

c.1498G>T

1 paper

NM_000932.5

p.A500V

c.1499C>T

1 paper

NM_000932.5

p.Q489insFs

c.1467dupG

1 paper

NM_000932.5

p.S505C

c.1514C>G

2 papers

NM_000932.5

p.R483H

c.1448G>A

1 paper

NM_000932.5

p.A481T

c.1441G>A

1 paper

NM_000932.5

p.K469T

c.1406A>C

1 paper

NM_000932.5

p.Y445insFs

c.1335dupC

1 paper

NM_000932.5

p.D443N

c.1327G>A

1 paper

NM_000932.5

p.I439I

c.1317C>T