Varaico: Literature-Extracted Genetic Variants

PLCB2

108 papers

RefSeq Summary

The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylgly...

Pfam Domains

PH_14aa 12–141UCSCPH domain

PLCB1-4-like_EFhaa 148–197UCSCPhosphoinositide phospholipase C beta1-4-like EF-hand domain

PLCB1-4-like_EFhaa 148–216UCSCPhosphoinositide phospholipase C beta1-4-like EF-hand domain

PI-PLC-Xaa 314–464UCSCPhosphatidylinositol-specific phospholipase C, X domain

PI-PLC-Yaa 546–660UCSCPhosphatidylinositol-specific phospholipase C, Y domain

C2aa 682–783UCSCC2 domain

Gene Aliases

HGNC Name

phospholipase C beta 2

HGNC Alias Symbol

FLJ38135

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004573.3

p.R253W

c.757C>T

Surrounding Variants

1 paper

NM_004573.3

p.R250Q

c.749G>A

1 paper

NM_004573.3

p.P260L

c.779C>T

1 paper

NM_004573.3

p.R263W

c.787C>T

1 paper

NM_004573.3

p.D265V

c.794A>T

1 paper

NM_004573.3

p.S301S

c.903C>T

1 paper

NM_004573.3

p.V302A

c.905T>C

1 paper

NM_004573.3

p.S227A

c.679T>G

1 paper

NM_004573.3

p.L303delFs

c.908delA

1 paper

NM_004573.3

p.D222E

c.666T>G

1 paper

NM_004573.3

p.D222E

c.666T>A

1 paper

NM_004573.3

p.N199S

c.596A>G

1 paper

NM_004573.3

p.T332T

c.996A>T