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

1 paper

NM_014638.4

p.T329M

c.986C>T

Surrounding Variants

1 paper

NM_014638.4

p.H334L

c.1001A>T

1 paper

NM_014638.4

p.D303N

c.907G>A

1 paper

NM_014638.4

p.N294fs

c.880_881fs

1 paper

NM_014638.4

p.P292L

c.875C>T

1 paper

NM_014638.4

p.P378P

c.1134C>T

1 paper

NM_014638.4

p.F396L

c.1186T>C

1 paper

NM_014638.4

p.F396L

c.1188C>A

1 paper

NM_014638.4

p.F396L

c.1188C>G

1 paper

NM_014638.4

p.I409F

c.1225A>T

1 paper

NM_014638.4

p.S424R

c.1270A>C

1 paper

NM_014638.4

p.S424R

c.1272T>A

1 paper

NM_014638.4

p.S424R

c.1272T>G