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.R1289*

c.3865C>T

Surrounding Variants

3 papers

NM_203446.3

p.P1288L

c.3863C>T

1 paper

NM_203446.3

p.S1293S

c.3879C>T

4 papers

NM_203446.3

p.T1282N

c.3845C>A

1 paper

NM_203446.3

p.P1278S

c.3832C>T

1 paper

NM_203446.3

p.Q1303R

c.3908A>G

1 paper

NM_203446.3

p.Q1273*

c.3817C>T

1 paper

NM_203446.3

p.P1272L

c.3815C>T

1 paper

NM_203446.3

p.P1272ins4

c.3815_3816ins12

1 paper

NM_203446.3

p.M1271V

c.3811A>G

1 paper

NM_203446.3

p.P1270L

c.3809C>T

1 paper

NM_203446.3

p.P1270S

c.3808C>T

1 paper

NM_203446.3

p.P1266L

c.3797C>T