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

7 papers

NM_003895.4

p.R136*

c.406C>T

NM_203446.3

p.R97*

c.289C>T

Surrounding Variants

1 paper

NM_203446.3

p.F96Y

c.287T>A

1 paper

NM_203446.3

p.K89_I90ins8

c.265_269ins24

1 paper

NM_203446.3

p.S105S

c.315A>T

1 paper

NM_203446.3

p.L106L

c.318G>T

1 paper

NM_203446.3

p.R107Q

c.320G>A

1 paper

NM_203446.3

p.G83*

c.247G>T

1 paper

NM_203446.3

p.L80L

c.240A>G

1 paper

NM_203446.3

p.R115R

c.345C>T

1 paper

NM_203446.3

p.S117L

c.350C>T

1 paper

NM_203446.3

p.V119A

c.356T>C

1 paper

NM_203446.3

p.V119V

c.357G>A

3 papers

NM_203446.3

p.R120W

c.358C>T