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.P1044T

c.3130C>A

Surrounding Variants

1 paper

NM_014638.4

p.R1030P

c.3089G>C

1 paper

NM_014638.4

p.R1030W

c.3088C>T

1 paper

NM_014638.4

p.P1018T

c.3052C>A

1 paper

NM_014638.4

p.G1013C

c.3037G>T

1 paper

NM_014638.4

p.T1076M

c.3227C>T

1 paper

NM_014638.4

p.L997R

c.2990T>G

1 paper

NM_014638.4

p.G1098E

c.3293G>A

1 paper

NM_014638.4

p.R1109W

c.3325C>T

1 paper

NM_014638.4

p.P1118A

c.3352C>G

1 paper

NM_014638.4

p.V1143I

c.3427G>A

1 paper

NM_014638.4

p.S1147ins0

c.3439_3441dupTCC

1 paper

NM_014638.4

p.S1144del1

c.3430_3431delTCC