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.H348R

c.1043A>G

Surrounding Variants

1 paper

NM_203446.3

p.S349G

c.1045A>G

1 paper

NM_203446.3

p.L347S

c.1040T>C

1 paper

NM_203446.3

p.V350I

c.1048G>A

1 paper

NM_203446.3

p.A344insFs

c.1030_1031insG

2 papers

NM_203446.3

p.A344T

c.1030G>A

1 paper

NM_203446.3

p.K343N

c.1029G>T

1 paper

NM_203446.3

p.K343K

c.1029G>A

1 paper

NM_203446.3

p.G342G

c.1026A>G

1 paper

NM_203446.3

p.G341R

c.1021G>C

1 paper

NM_203446.3

p.G341R

c.1021G>A

1 paper

NM_203446.3

p.Q356*

c.1066C>T

1 paper

NM_203446.3

p.M338I

c.1014G>T