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.I746L

c.2236A>C

Surrounding Variants

1 paper

NM_203446.3

p.I746L

c.2236A>T

1 paper

NM_203446.3

p.I746T

c.2237T>C

1 paper

NM_203446.3

p.Q748*

c.2242C>T

1 paper

NM_203446.3

p.V742V

c.2226T>A

1 paper

NM_203446.3

p.E741D

c.2223A>T

1 paper

NM_203446.3

p.E741E

c.2223A>G

1 paper

NM_203446.3

p.E740G

c.2219A>G

2 papers

NM_003895.4

p.D791fs

c.2371_2372fs

3 papers

NM_203446.3

p.D752Y

c.2254G>T

1 paper

NM_203446.3

p.N739N

c.2217C>T

1 paper

NM_203446.3

p.D752G

c.2255A>G

1 paper

NM_003895.4

p.D791delins

c.2371_2372delinsAT