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

8 papers

NM_003895.4

p.R839C

c.2515C>T

NM_203446.3

p.R800C

c.2398C>T

Surrounding Variants

1 paper

NM_203446.3

p.R800H

c.2399G>A

1 paper

NM_203446.3

p.E797E

c.2391A>G

1 paper

NM_203446.3

p.T801_P802delFs

c.2402_2405del4

3 papers

NM_003895.4

p.W843*

c.2528G>A

3 papers

NM_003895.4

p.W843*

c.2529G>A

1 paper

NM_203446.3

p.T805P

c.2413A>C

5 papers

NM_003895.4

p.Y832C

c.2495A>G

NM_203446.3

p.Y793C

c.2378A>G

1 paper

NM_203446.3

p.R807C

c.2419C>T

1 paper

NM_203446.3

p.R807G

c.2419C>G

1 paper

NM_203446.3

p.D791fs

c.2371_2372fs

1 paper

NM_203446.3

p.D791G

c.2372A>G

1 paper

NM_203446.3

p.D791delFs

c.2371delC