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.A1046T

c.3136G>A

Surrounding Variants

1 paper

NM_015192.4

p.T1043M

c.3128C>T

1 paper

NM_015192.4

p.K1063Splc

c.3188+8C>T

1 paper

NM_015192.4

p.I1110I

c.3330C>T

1 paper

NM_015192.4

p.K1111R

c.3332A>G

1 paper

NM_015192.4

p.E1114G

c.3341A>G

1 paper

NM_015192.4

p.A1116V

c.3347C>T

1 paper

NM_015192.4

p.R1120Q

c.3359G>A

1 paper

NM_015192.4

p.R1132L

c.3395G>T