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.F1243delFs

c.3727delA

Surrounding Variants

1 paper

NM_014996.4

p.G1237E

c.3710G>A

1 paper

NM_014996.4

p.S1254W

c.3761C>G

1 paper

NM_014996.4

p.D1280D

c.3840T>C

1 paper

NM_014996.4

p.T1198T

c.3594C>A

1 paper

NM_014996.4

p.E1318*

c.3952G>T

1 paper

NM_014996.4

p.S1160*

c.3479C>G

1 paper

NM_014996.4

p.S1160*

c.3479C>A

1 paper

NM_014996.4

p.N1133D

c.3397A>G

1 paper

NM_014996.4

p.G1356*

c.4066G>T

1 paper

NM_014996.4

p.K1098N

c.3294A>T

1 paper

NM_014996.4

p.K1098N

c.3294A>C

1 paper

NM_014996.4

p.V1409I

c.4225G>A