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.G185R

c.553G>A

Surrounding Variants

1 paper

NM_014638.4

p.G185R

c.553G>C

1 paper

NM_014638.4

p.A181V

c.542C>T

1 paper

NM_014638.4

p.E180G

c.539A>G

1 paper

NM_014638.4

p.T177M

c.530C>T

1 paper

NM_014638.4

p.N202H

c.604A>C

1 paper

NM_014638.4

p.M213L

c.637A>C

1 paper

NM_014638.4

p.R168H

c.503G>A

1 paper

NM_014638.4

p.R166H

c.497G>A

1 paper

NM_014638.4

p.D161V

c.482A>T

1 paper

NM_014638.4

p.D159N

c.475G>A

1 paper

NM_014638.4

p.A143V

c.428C>T

1 paper

NM_014638.4

p.Y125C

c.374A>G