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.M330L

c.988A>T

Surrounding Variants

1 paper

NM_203446.3

p.M330L

c.988A>C

1 paper

NM_203446.3

p.D334H

c.1000G>C

1 paper

NM_003895.4

p.A365T

c.1093G>A

1 paper

NM_203446.3

p.D334G

c.1001A>G

1 paper

NM_203446.3

p.D334D

c.1002C>T

1 paper

NM_203446.3

p.H324Q

c.972T>G

1 paper

NM_203446.3

p.H324Q

c.972T>A

1 paper

NM_203446.3

p.E323G

c.968A>G

1 paper

NM_203446.3

p.S322S

c.966T>G

1 paper

NM_203446.3

p.M338V

c.1012A>G

1 paper

NM_203446.3

p.M338I

c.1014G>T

1 paper

NM_203446.3

p.M338I

c.1014G>C