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

Selected Variant

1 paper

NM_003898.4

p.F1001C

c.3002T>G

Surrounding Variants

1 paper

NM_003898.4

p.A986V

c.2957C>T

1 paper

NM_003898.4

p.R980W

c.2938C>T

1 paper

NM_003898.4

p.D1020N

c.3058G>A

1 paper

NM_003898.4

p.D1024N

c.3070G>A

1 paper

NM_003898.4

p.L1036L

c.3108C>T

1 paper

NM_003898.4

p.T1060N

c.3179C>A

1 paper

NM_003898.4

p.H1065fs

c.3193_3194fs

1 paper

NM_003898.4

p.S944L

c.2831C>T

1 paper

NM_003898.4

p.G933V

c.2798G>T

1 paper

NM_003898.4

p.T900T

c.2700C>G

1 paper

NM_003898.4

p.V893I

c.2677G>A

1 paper

NM_003898.4

p.R874P

c.2621G>C