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.Q627H

c.1881G>C

Surrounding Variants

1 paper

NM_015192.4

p.Q627H

c.1881G>T

1 paper

NM_015192.4

p.D630V

c.1889A>T

1 paper

NM_015192.4

p.W615S

c.1844G>C

1 paper

NM_015192.4

p.Q612H

c.1836G>C

1 paper

NM_015192.4

p.Q612H

c.1836G>T

1 paper

NM_015192.4

p.S607S

c.1821C>A

1 paper

NM_015192.4

p.Y648*

c.1944C>A

1 paper

NM_015192.4

p.Y648*

c.1944C>G

1 paper

NM_015192.4

p.R649G

c.1945A>G

1 paper

NM_015192.4

p.P658S

c.1972C>T

1 paper

NM_015192.4

p.D659E

c.1977C>A

1 paper

NM_015192.4

p.D659E

c.1977C>G