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

1 paper

NM_015192.4

p.P813_I814del2

c.2437_2441del6

Surrounding Variants

1 paper

NM_015192.4

p.P813R

c.2438C>G

1 paper

NM_015192.4

p.R815*

c.2443C>T

2 papers

NM_015192.4

p.K825R

c.2474A>G

1 paper

NM_015192.4

p.E835del1

c.2503_2504delGAA

1 paper

NM_015192.4

p.E841_A842Splc

c.2523+9G>T

1 paper

NM_015192.4

p.D805H

c.2413G>C

1 paper

NM_015192.4

p.D801E

c.2403C>A

1 paper

NM_015192.4

p.D801E

c.2403C>G

1 paper

NM_015192.4

p.D801N

c.2401G>A

1 paper

NM_015192.4

p.N781T

c.2342A>C

2 papers

NM_015192.4

p.R768W

c.2302C>T

1 paper

NM_015192.4

p.R760H

c.2279G>A