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.F425L

c.1275T>A

Surrounding Variants

1 paper

NM_203446.3

p.F425L

c.1275T>G

1 paper

NM_203446.3

p.F425L

c.1273T>C

1 paper

NM_203446.3

p.Q422K

c.1264C>A

7 papers

NM_003895.4

p.R459P

c.1376G>C

4 papers

NM_003895.4

p.R459H

c.1376G>A

NM_203446.3

p.R420H

c.1259G>A

1 paper

NM_203446.3

p.S437S

c.1311T>C

1 paper

NM_203446.3

p.I439V

c.1315A>G

1 paper

NM_203446.3

p.K404N

c.1212A>T

1 paper

NM_203446.3

p.A403_K404insT

c.1207_1211ins3

1 paper

NM_203446.3

p.L402Q

c.1205T>A

1 paper

NM_203446.3

p.K449R

c.1346A>G

1 paper

NM_203446.3

p.M401K

c.1202T>A