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.P1113P

c.3339T>C

Surrounding Variants

1 paper

NM_003898.4

p.P1113T

c.3337C>A

3 papers

NM_003898.4

p.P1113fs

c.3337_3338fs

1 paper

NM_003898.4

p.P1113delFs

c.3338delC

1 paper

NM_003898.4

p.Q1109K

c.3325C>A

1 paper

NM_003898.4

p.P1108L

c.3323C>T

1 paper

NM_003898.4

p.P1108S

c.3322C>T

1 paper

NM_003898.4

p.D1070fs

c.3208_3209fs

1 paper

NM_003898.4

p.D1070delFs

c.3209delA

1 paper

NM_003898.4

p.A1126V

c.3377C>T

1 paper

NM_003898.4

p.H1065fs

c.3193_3194fs

1 paper

NM_003898.4

p.T1060N

c.3179C>A

1 paper

NM_003898.4

p.L1036L

c.3108C>T