Varaico: Literature-Extracted Genetic Variants

SYNJ1

245 papers

RefSeq Summary

This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membra...

Pfam Domains

Syja_Naa 60–340UCSCSacI homology domain

Exo_endo_phos2aa 577–904UCSCEndonuclease/Exonuclease/phosphatase family 2

DUF1866aa 906–1048UCSCDomain of unknown function (DUF1866)

Gene Aliases

HGNC Name

synaptojanin 1

HGNC Alias Symbols

INPP5G; PARK20

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_203446.3

p.R181H

c.542G>A

Surrounding Variants

1 paper

NM_203446.3

p.L180L

c.538T>C

1 paper

NM_203446.3

p.M183I

c.549G>T

1 paper

NM_203446.3

p.M183I

c.549G>C

1 paper

NM_203446.3

p.M183I

c.549G>A

1 paper

NM_203446.3

p.W178*

c.534G>A

1 paper

NM_203446.3

p.W178L

c.533G>T

1 paper

NM_203446.3

p.C184Y

c.551G>A

1 paper

NM_203446.3

p.W178*

c.533G>A

1 paper

NM_203446.3

p.C175Y

c.524G>A

1 paper

NM_203446.3

p.Y171H

c.511T>C

1 paper

NM_203446.3

p.T191T

c.573A>G

1 paper

NM_203446.3

p.T191delFs

c.573delT