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

7 papers

NM_203446.3

p.K295R

c.884A>G

Surrounding Variants

1 paper

NM_203446.3

p.K295K

c.885A>G

2 papers

NM_003895.4

p.K334Q

c.1000A>C

NM_203446.3

p.K295Q

c.883A>C

1 paper

NM_203446.3

p.G294G

c.882T>G

2 papers

NM_203446.3

p.Q296*

c.886C>T

1 paper

NM_203446.3

p.Y293Y

c.879T>C

1 paper

NM_203446.3

p.I297V

c.889A>G

1 paper

NM_203446.3

p.I297M

c.891A>G

1 paper

NM_203446.3

p.L292F

c.876A>T

1 paper

NM_203446.3

p.K290E

c.868A>G

1 paper

NM_203446.3

p.L301M

c.901T>A

1 paper

NM_203446.3

p.G303R

c.907G>A

1 paper

NM_203446.3

p.G303V

c.908G>T