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.H722Q

c.2166T>G

Surrounding Variants

1 paper

NM_203446.3

p.H722Q

c.2166T>A

1 paper

NM_203446.3

p.Y724C

c.2171A>G

1 paper

NM_203446.3

p.Y724Y

c.2172T>C

1 paper

NM_203446.3

p.V725insFs

c.2174dupT

1 paper

NM_203446.3

p.M718T

c.2153T>C

1 paper

NM_203446.3

p.M718K

c.2153T>A

2 papers

NM_203446.3

p.C728Y

c.2183G>A

5 papers

NM_203446.3

p.D730A

c.2189A>C

1 paper

NM_203446.3

p.N732S

c.2195A>G

1 paper

NM_203446.3

p.R734*

c.2200C>T

1 paper

NM_203446.3

p.I735I

c.2205C>T

1 paper

NM_203446.3

p.D736N

c.2206G>A