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

1 paper

NM_004573.3

p.L95R

c.284T>G

Surrounding Variants

2 papers

NM_004573.3

p.N86K

c.258C>G

2 papers

NM_004573.3

p.N86K

c.258C>A

2 papers

NM_004573.3

p.R82W

c.244C>T

1 paper

NM_004573.3

p.H113Q

c.339C>G

1 paper

NM_004573.3

p.H113Q

c.339C>A

1 paper

NM_004573.3

p.G123D

c.368G>A

1 paper

NM_004573.3

p.A142G

c.425C>G

1 paper

NM_004573.3

p.R144L

c.431G>T

2 papers

NM_004573.3

p.T146I

c.437C>T

1 paper

NM_004573.3

p.A187S

c.559G>T

1 paper

NM_004573.3

p.H189_L190delFs

c.565_568del4

1 paper

NM_004573.3

p.G193D

c.578G>A