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

4 papers

NM_203446.3

p.C383S

c.1147T>A

NM_003895.4

p.C422S

c.1264T>A

Surrounding Variants

4 papers

NM_203446.3

p.C383S

c.1148G>C

NM_003895.4

p.C422S

c.1265G>C

1 paper

NM_203446.3

p.R380L

c.1139G>T

1 paper

NM_203446.3

p.R380Q

c.1139G>A

2 papers

NM_203446.3

p.R380*

c.1138C>T

1 paper

NM_203446.3

p.G377S

c.1129G>A

1 paper

NM_203446.3

p.S376R

c.1128T>G

1 paper

NM_203446.3

p.S376R

c.1128T>A

1 paper

NM_203446.3

p.S376R

c.1126A>C

1 paper

NM_203446.3

p.Q394Q

c.1182G>A

1 paper

NM_203446.3

p.E400Q

c.1198G>C

1 paper

NM_003895.4

p.E409G

c.1226A>G

1 paper

NM_203446.3

p.S369N

c.1106G>A