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

1–12 of 135 variants

4 papers

NM_014638.4

p.G28A

c.83G>C

3 papers

NM_014638.4

p.L756_K757ins3

c.2268_2269ins9

2 papers

NM_014638.4

p.T15M

c.44C>T

2 papers

NM_014638.4

p.R1227G

c.3679A>G

2 papers

NM_014638.4

p.L1363R

c.4088T>G

1 paper

NM_014638.4

p.P6L

c.17C>T

1 paper

NM_014638.4

p.D9N

c.25G>A

1 paper

NM_014638.4

p.W25*

c.74G>A

1 paper

NM_014638.4

p.G39G

c.117C>T

1 paper

NM_014638.4

p.R44W

c.130C>T

1 paper

NM_014638.4

p.M55ins1

c.164_165insACA

1 paper

NM_014638.4

p.G61S

c.181G>A