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.C220C

c.660C>T

Surrounding Variants

1 paper

NM_015192.4

p.R222*

c.664C>T

1 paper

NM_015192.4

p.V271_Q272delFs

c.813_814delCC

1 paper

NM_015192.4

p.E279delFs

c.835delG

1 paper

NM_015192.4

p.L284F

c.850C>T

1 paper

NM_015192.4

p.R286K

c.857G>A

1 paper

NM_015192.4

p.A188D

c.563C>A

2 papers

NM_015192.4

p.R184*

c.550C>T

1 paper

NM_015192.4

p.N173D

c.517A>G

1 paper

NM_015192.4

p.L171F

c.511C>T

1 paper

NM_015192.4

p.R168H

c.503G>A

1 paper

NM_015192.4

p.T164I

c.491C>T

1 paper

NM_015192.4

p.Q162*

c.484C>T