Varaico: Literature-Extracted Genetic Variants

PLCH1

53 papers

RefSeq Summary

PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate seco...

Pfam Domains

PH_12aa 15–128UCSCPleckstrin homology domain

EF-hand_likeaa 207–292UCSCPhosphoinositide-specific phospholipase C, efhand-like

PI-PLC-Xaa 301–445UCSCPhosphatidylinositol-specific phospholipase C, X domain

PI-PLC-Yaa 601–712UCSCPhosphatidylinositol-specific phospholipase C, Y domain

C2aa 732–841UCSCC2 domain

Gene Aliases

HGNC Name

phospholipase C eta 1

HGNC Previous Symbol

PLCL3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014996.4

p.D1545A

c.4634A>C

Surrounding Variants

1 paper

NM_014996.4

p.P1530H

c.4589C>A

1 paper

NM_014996.4

p.R1577*

c.4729A>T

1 paper

NM_014996.4

p.S1492*

c.4475C>A

2 papers

NM_014996.4

p.L1607delFs

c.4820delA

1 paper

NM_014996.4

p.L1471F

c.4411C>T

1 paper

NM_014996.4

p.T1623I

c.4868C>T

1 paper

NM_014996.4

p.P1463S

c.4387C>T

1 paper

NM_014996.4

p.G1637delFs

c.4910delC

1 paper

NM_014996.4

p.T1650M

c.4949C>T

1 paper

NM_014996.4

p.A1428T

c.4282G>A

1 paper

NM_014996.4

p.V1409I

c.4225G>A

1 paper

NM_014996.4

p.G1356*

c.4066G>T