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.F130L

c.390T>G

Surrounding Variants

1 paper

NM_203446.3

p.F130L

c.390T>A

1 paper

NM_203446.3

p.F130L

c.388T>C

1 paper

NM_203446.3

p.W132R

c.394T>C

1 paper

NM_203446.3

p.W132R

c.394T>A

2 papers

NM_003895.4

p.W171*

c.512G>A

2 papers

NM_003895.4

p.W171*

c.513G>A

1 paper

NM_203446.3

p.N127I

c.380A>T

1 paper

NM_203446.3

p.N127Y

c.379A>T

1 paper

NM_203446.3

p.S135insFs

c.403_404insT

1 paper

NM_203446.3

p.S125*

c.374C>G

1 paper

NM_203446.3

p.S125*

c.374C>A

2 papers

NM_203446.3

p.G136D

c.407G>A