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

3 papers

NM_014638.4

p.L756_K757ins3

c.2268_2269ins9

Surrounding Variants

1 paper

NM_014638.4

p.K758E

c.2272A>G

1 paper

NM_014638.4

p.E783_I784ins3

c.2349_2350ins9

1 paper

NM_014638.4

p.I784I

c.2352C>T

1 paper

NM_014638.4

p.R802R

c.2406G>A

1 paper

NM_014638.4

p.T805A

c.2413A>G

1 paper

NM_014638.4

p.N811N

c.2433C>T

1 paper

NM_014638.4

p.T816T

c.2448C>T

1 paper

NM_014638.4

p.I830fs

c.2488_2489fs

1 paper

NM_014638.4

p.I843I

c.2529C>T

1 paper

NM_001303012.2

p.C711Y

c.2132G>A

1 paper

NM_014638.4

p.V865M

c.2593G>A

1 paper

NM_014638.4

p.A880V

c.2639C>T