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

1–12 of 549 variants

13 papers

NM_003895.4

p.R258Q

c.773G>A

7 papers

NM_203446.3

p.K295R

c.884A>G

7 papers

NM_003895.4

p.R459P

c.1376G>C

6 papers

NM_003895.4

p.R136*

c.406C>T

5 papers

NM_203446.3

p.R219Q

c.656G>A

5 papers

NM_203446.3

p.D730A

c.2189A>C

5 papers

NM_003895.4

p.R839C

c.2515C>T

4 papers

NM_203446.3

p.G51D

c.152G>A

4 papers

NM_203446.3

p.C383S

c.1147T>A

4 papers

NM_203446.3

p.C383S

c.1148G>C

4 papers

NM_003895.4

p.Y888C

c.2663A>G

4 papers

NM_203446.3

p.T1282N

c.3845C>A