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.V873I

c.2617G>A

Surrounding Variants

1 paper

NM_203446.3

p.E872*

c.2614G>T

1 paper

NM_203446.3

p.E877K

c.2629G>A

1 paper

NM_203446.3

p.I866T

c.2597T>C

1 paper

NM_203446.3

p.V863I

c.2587G>A

1 paper

NM_203446.3

p.V862A

c.2585T>C

1 paper

NM_203446.3

p.V862I

c.2584G>A

1 paper

NM_203446.3

p.P892R

c.2675C>G

1 paper

NM_203446.3

p.V896A

c.2687T>C

1 paper

NM_203446.3

p.F910insFs

c.2730dupT

1 paper

NM_203446.3

p.Q920H

c.2760G>T

1 paper

NM_203446.3

p.Q920H

c.2760G>C

2 papers

NM_203446.3

p.T856N

c.2567C>A