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.E1202D

c.3606G>C

Surrounding Variants

1 paper

NM_015192.4

p.E1202D

c.3606G>T

1 paper

NM_015192.4

p.I1207insFs

c.3621dupC

1 paper

NM_015192.4

p.G1209fs

c.3625_3626fs

1 paper

NM_015192.4

p.H1195N

c.3583C>A

1 paper

NM_015192.4

p.E1211K

c.3631G>A

1 paper

NM_015192.4

p.F1212S

c.3635T>C

3 papers

NM_015192.4

p.P1215S

c.3643C>T

2 papers

NM_015192.4

p.L1184F

c.3550C>T

1 paper

NM_015192.4

p.H1179D

c.3535C>G

1 paper

NM_015192.4

p.V1165M

c.3493G>A

1 paper

NM_015192.4

p.F1164F

c.3492C>T

1 paper

NM_015192.4

p.Q1151*

c.3451C>T