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

1–12 of 55 variants

2 papers

NM_014996.4

p.L1607delFs

c.4820delA

1 paper

NM_014996.4

p.R9R

c.27G>A

1 paper

NM_014996.4

p.R15C

c.43C>T

1 paper

NM_014996.4

p.F25delFs

c.75delA

1 paper

NM_014996.4

p.G37V

c.110G>T

1 paper

NM_014996.4

p.S68F

c.203C>T

1 paper

NM_014996.4

p.E72K

c.214G>A

1 paper

NM_014996.4

p.K75delFs

c.223_224delTT

1 paper

NM_014996.4

p.K75del1

c.223_224delTTT

1 paper

NM_014996.4

p.K83*

c.247A>T

1 paper

NM_014996.4

p.T212K

c.635C>A

1 paper

NM_014996.4

p.M223_S224del2

c.667_671del6