Varaico: Literature-Extracted Genetic Variants

PLCH2

109 papers

RefSeq Summary

PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosph...

Pfam Domains

PH_12aa 41–155UCSCPleckstrin homology domain

EF-hand_likeaa 234–319UCSCPhosphoinositide-specific phospholipase C, efhand-like

PI-PLC-Xaa 328–472UCSCPhosphatidylinositol-specific phospholipase C, X domain

PI-PLC-Yaa 626–738UCSCPhosphatidylinositol-specific phospholipase C, Y domain

Gene Aliases

HGNC Name

phospholipase C eta 2

HGNC Previous Symbol

PLCL4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_014638.4

p.L1363R

c.4088T>G

Surrounding Variants

1 paper

NM_014638.4

p.R1359P

c.4076G>C

1 paper

NM_014638.4

p.E1358Q

c.4072G>C

1 paper

NM_014638.4

p.Q1355R

c.4064A>G

1 paper

NM_014638.4

p.R1354C

c.4060C>T

1 paper

NM_014638.4

p.E1373E

c.4119A>G

1 paper

NM_014638.4

p.R1352Q

c.4055G>A

1 paper

NM_014638.4

p.G1381C

c.4141G>T

1 paper

NM_014638.4

p.H1343Q

c.4029C>A

1 paper

NM_014638.4

p.H1343Q

c.4029C>G

1 paper

NM_014638.4

p.R1341C

c.4021C>T

1 paper

NM_014638.4

p.R1336Q

c.4007G>A

1 paper

NM_014638.4

p.L1306F

c.3916C>T