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.E906K

c.2716G>A

Surrounding Variants

1 paper

NM_004573.3

p.R903R

c.2707C>A

1 paper

NM_004573.3

p.E908del1

c.2722_2724delCTC

1 paper

NM_004573.3

p.P884R

c.2651C>G

1 paper

NM_004573.3

p.R954H

c.2861G>A

1 paper

NM_004573.3

p.K955E

c.2863A>G

1 paper

NM_004573.3

p.G872R

c.2614G>A

1 paper

NM_004573.3

p.S958I

c.2873G>T

1 paper

NM_004573.3

p.G970R

c.2908G>C

1 paper

NM_004573.3

p.E971K

c.2911G>A

1 paper

NM_004573.3

p.G978W

c.2932G>T

1 paper

NM_004573.3

p.R981Q

c.2942G>A

1 paper

NM_004573.3

p.T862K

c.2585C>A