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.R571G

c.1711C>G

Surrounding Variants

1 paper

NM_014638.4

p.V576V

c.1728C>T

1 paper

NM_014638.4

p.R582G

c.1744A>G

1 paper

NM_014638.4

p.V560M

c.1678G>A

1 paper

NM_014638.4

p.K592E

c.1774A>G

1 paper

NM_014638.4

p.K592T

c.1775A>C

1 paper

NM_014638.4

p.G608V

c.1823G>T

1 paper

NM_014638.4

p.A613A

c.1839G>A

1 paper

NM_014638.4

p.A637A

c.1911C>T

1 paper

NM_014638.4

p.L678F

c.2032C>T

1 paper

NM_014638.4

p.A701T

c.2101G>A

1 paper

NM_001303012.2

p.C711Y

c.2132G>A

1 paper

NM_014638.4

p.R552H

c.1655G>A