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.R1207L

c.3620G>T

Surrounding Variants

1 paper

NM_014638.4

p.A1208delFs

c.3622delG

1 paper

NM_014638.4

p.A1208fs

c.3622_3623fs

1 paper

NM_014638.4

p.N1203N

c.3609C>T

1 paper

NM_014638.4

p.P1221S

c.3661C>T

1 paper

NM_014638.4

p.R1191C

c.3571C>T

1 paper

NM_014638.4

p.P1226S

c.3676C>T

2 papers

NM_014638.4

p.R1227G

c.3679A>G

1 paper

NM_014638.4

p.L1231insFs

c.3693dupC

1 paper

NM_014638.4

p.F1233fs

c.3697_3698fs

1 paper

NM_014638.4

p.P1236S

c.3706C>T

1 paper

NM_014638.4

p.T1261I

c.3782C>T

1 paper

NM_014638.4

p.S1151S

c.3453C>T