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.N222K

c.666T>A

Surrounding Variants

15 papers

NM_003895.4

p.R258Q

c.773G>A

NM_203446.3

p.R219Q

c.656G>A

1 paper

NM_003895.4

p.R258W

c.772C>T

1 paper

NM_003895.4

p.R258G

c.772C>G

1 paper

NM_203446.3

p.E234K

c.700G>A

1 paper

NM_203446.3

p.R211Q

c.632G>A

2 papers

NM_203446.3

p.R211*

c.631C>T

1 paper

NM_203446.3

p.A199A

c.597G>A

1 paper

NM_203446.3

p.A199T

c.595G>A

2 papers

NM_003895.4

p.Q237*

c.709C>T

3 papers

NM_203446.3

p.A195T

c.583G>A

NM_003895.4

p.A234T

c.700G>A

1 paper

NM_203446.3

p.A194A

c.582T>A

1 paper

NM_203446.3

p.Y193D

c.577T>G