Varaico: Literature-Extracted Genetic Variants

PLCB3

107 papers

RefSeq Summary

This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosp...

Pfam Domains

PH_14aa 17–146UCSCPH domain

PLCB1-4-like_EFhaa 153–221UCSCPhosphoinositide phospholipase C beta1-4-like EF-hand domain

PI-PLC-Xaa 319–469UCSCPhosphatidylinositol-specific phospholipase C, X domain

PI-PLC-Yaa 590–704UCSCPhosphatidylinositol-specific phospholipase C, Y domain

Gene Aliases

HGNC Name

phospholipase C beta 3

HGNC Previous Name

phospholipase C, beta 3 (phosphatidylinositol-specific)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001184883.2

p.G1155_A1156del1

c.3465_3467delCGC

Surrounding Variants

1 paper

NM_000932.5

p.G1218R

c.3652G>A

1 paper

NM_000932.5

p.G1218R

c.3652G>C

2 papers

NM_000932.5

p.A1213T

c.3637G>A

1 paper

NM_000932.5

p.A1208V

c.3623C>T

1 paper

NM_000932.5

p.D1201N

c.3601G>A

1 paper

NM_000932.5

p.R1188C

c.3562C>T

1 paper

NM_000932.5

p.E1140Q

c.3418G>C

1 paper

NM_000932.5

p.R1137L

c.3410G>T

1 paper

NM_000932.5

p.L1121L

c.3361C>T

1 paper

NM_000932.5

p.R1102C

c.3304C>T

1 paper

NM_000932.5

p.Q1079E

c.3235C>G

1 paper

NM_000932.5

p.L1061R

c.3182T>G