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.G380V

c.1139G>T

Surrounding Variants

1 paper

NM_000932.5

p.V387V

c.1161G>A

1 paper

NM_000932.5

p.E372K

c.1114G>A

1 paper

NM_000932.5

p.V361M

c.1081G>A

1 paper

NM_000932.5

p.S404*

c.1211C>A

1 paper

NM_000932.5

p.S404L

c.1211C>T

1 paper

NM_000932.5

p.P405A

c.1213C>G

1 paper

NM_001184883.2

p.T277_S278del1

c.831_833delCTC

1 paper

NM_000932.5

p.G339E

c.1016G>A

1 paper

NM_000932.5

p.A423T

c.1267G>A

1 paper

NM_000932.5

p.A423E

c.1268C>A

1 paper

NM_000932.5

p.L437L

c.1311A>G

1 paper

NM_000932.5

p.I439I

c.1317C>T