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.Q237H

c.711G>C

Surrounding Variants

1 paper

NM_003898.4

p.Q237H

c.711G>T

3 papers

NM_003898.4

p.G227S

c.679G>A

1 paper

NM_003898.4

p.G227C

c.679G>T

1 paper

NM_003898.4

p.R213H

c.638G>A

1 paper

NM_003898.4

p.L205V

c.613C>G

1 paper

NM_003898.4

p.A203D

c.608C>A

1 paper

NM_003898.4

p.S197F

c.590C>T

1 paper

NM_003898.4

p.I191delFs

c.573delC

1 paper

NM_003898.4

p.V188V

c.564G>A

1 paper

NM_003898.4

p.V175L

c.523G>C

1 paper

NM_003898.4

p.V175L

c.523G>T

1 paper

NM_003898.4

p.H173Y

c.517C>T