Varaico: Literature-Extracted Genetic Variants

PLCB1

149 papers

RefSeq Summary

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and pla...

Pfam Domains

PH_14aa 17–145UCSCPH domain

PLCB1-4-like_EFhaa 152–220UCSCPhosphoinositide phospholipase C beta1-4-like EF-hand domain

PI-PLC-Xaa 318–468UCSCPhosphatidylinositol-specific phospholipase C, X domain

PI-PLC-Yaa 540–654UCSCPhosphatidylinositol-specific phospholipase C, Y domain

PLC-beta_Caa 899–1176UCSCPLC-beta C terminal

Gene Aliases

HGNC Name

phospholipase C beta 1

HGNC Alias Symbols

KIAA0581; PLC-I; PLC154

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_015192.4

p.Y490C

c.1469A>G

Surrounding Variants

1 paper

NM_015192.4

p.S494C

c.1481C>G

1 paper

NM_015192.4

p.K467*

c.1399A>T

1 paper

NM_015192.4

p.Y460C

c.1379A>G

1 paper

NM_015192.4

p.P451L

c.1352C>T

1 paper

NM_015192.4

p.F432F

c.1296T>C

1 paper

NM_015192.4

p.E426E

c.1278G>A

1 paper

NM_015192.4

p.G505Splc

c.1514-193G>A

1 paper

NM_015192.4

p.D512D

c.1536C>T

1 paper

NM_015192.4

p.D517Y

c.1549G>T

1 paper

NM_015192.4

p.E527_G528Splc

c.1581+77C>G

1 paper

NM_015192.4

p.S532I

c.1595G>T

1 paper

NM_015192.4

p.E533delFs

c.1597delG