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.L57P

c.170T>C

Surrounding Variants

1 paper

NM_203446.3

p.L57M

c.169C>A

1 paper

NM_203446.3

p.V56_L57delins

c.168_171delinsA

1 paper

NM_203446.3

p.A59T

c.175G>A

1 paper

NM_203446.3

p.K55K

c.165A>G

1 paper

NM_203446.3

p.A59A

c.177A>G

1 paper

NM_203446.3

p.Y60C

c.179A>G

1 paper

NM_203446.3

p.T52I

c.155C>T

1 paper

NM_203446.3

p.L62insFs

c.185dupT

1 paper

NM_203446.3

p.L63insFs

c.187_188insAA

4 papers

NM_203446.3

p.G51D

c.152G>A

1 paper

NM_203446.3

p.G51S

c.151G>A

1 paper

NM_203446.3

p.K50N

c.150G>T