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

1–12 of 140 variants

3 papers

NM_015192.4

p.P1215S

c.3643C>T

2 papers

NM_015192.4

p.A10S

c.28G>T

2 papers

NM_015192.4

p.D33_D34Splc

c.99+1G>A

2 papers

NM_015192.4

p.R184*

c.550C>T

2 papers

NM_015192.4

p.Y349F

c.1046A>T

2 papers

NM_015192.4

p.Y490C

c.1469A>G

2 papers

NM_015192.4

p.R768W

c.2302C>T

2 papers

NM_015192.4

p.K825R

c.2474A>G

2 papers

NM_015192.4

p.A1046T

c.3136G>A

2 papers

NM_015192.4

p.L1184F

c.3550C>T

1 paper

NM_015192.4

p.Q5*

c.13C>T

1 paper

NM_015192.4

p.A10D

c.29C>A