Varaico: Literature-Extracted Genetic Variants

SYNJ2

130 papers

RefSeq Summary

The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded pr...

Pfam Domains

Syja_Naa 2–105UCSCSacI homology domain

Syja_Naa 61–342UCSCSacI homology domain

Exo_endo_phos2aa 535–861UCSCEndonuclease/Exonuclease/phosphatase family 2

DUF1866aa 863–1008UCSCDomain of unknown function (DUF1866)

Gene Aliases

HGNC Name

synaptojanin 2

HGNC Alias Symbol

INPP5H

Papers

RefSeq ID

Protein change

DNA change

1–12 of 122 variants

5 papers

NM_003898.4

p.T656M

c.1967C>T

3 papers

NM_003898.4

p.G227S

c.679G>A

3 papers

NM_003898.4

p.N538K

c.1614C>A

3 papers

NM_003898.4

p.N538K

c.1614C>G

3 papers

NM_003898.4

p.P1113fs

c.3337_3338fs

2 papers

NM_003898.4

p.I50T

c.149T>C

2 papers

NM_003898.4

p.L76fs

c.226_227fs

2 papers

NM_003898.4

p.V301M

c.901G>A

2 papers

NM_003898.4

p.E403D

c.1209G>C

2 papers

NM_003898.4

p.E403D

c.1209G>T

1 paper

NM_003898.4

p.A2V

c.5C>T

1 paper

NM_003898.4

p.V39L

c.115G>T