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.A815S

c.2443G>T

Surrounding Variants

1 paper

NM_004573.3

p.G838E

c.2513G>A

1 paper

NM_004573.3

p.G839fs

c.2515_2516fs

1 paper

NM_004573.3

p.D803N

c.2407G>A

1 paper

NM_004573.3

p.K802N

c.2406G>T

1 paper

NM_004573.3

p.K802N

c.2406G>C

1 paper

NM_004573.3

p.M801L

c.2401A>T

1 paper

NM_004573.3

p.M801L

c.2401A>C

1 paper

NM_004573.3

p.E800D

c.2400G>T

1 paper

NM_004573.3

p.E800D

c.2400G>C

1 paper

NM_004573.3

p.A794T

c.2380G>A

1 paper

NM_004573.3

p.T862K

c.2585C>A

1 paper

NM_004573.3

p.Y777*

c.2331C>G