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_003895.4

p.A860Splc

c.2579-2A>G

Surrounding Variants

2 papers

NM_003895.4

p.A860fs

c.2578_2579fs

1 paper

NM_203446.3

p.L824I

c.2470C>A

1 paper

NM_203446.3

p.L827I

c.2479C>A

3 papers

NM_203446.3

p.Q832R

c.2495A>G

1 paper

NM_003895.4

p.D872Y

c.2614G>T

1 paper

NM_203446.3

p.T842A

c.2524A>G

1 paper

NM_203446.3

p.T842N

c.2525C>A

5 papers

NM_003895.4

p.Y888C

c.2663A>G

NM_203446.3

p.Y849C

c.2546A>G

1 paper

NM_203446.3

p.T856P

c.2566A>C

2 papers

NM_203446.3

p.T856N

c.2567C>A

1 paper

NM_203446.3

p.V862I

c.2584G>A

1 paper

NM_203446.3

p.V862A

c.2585T>C