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.L142L

c.424C>T

Surrounding Variants

1 paper

NM_003898.4

p.D136N

c.406G>A

1 paper

NM_003898.4

p.N135insFs

c.403_404insT

1 paper

NM_003898.4

p.W156*

c.467G>A

1 paper

NM_003898.4

p.W156*

c.468G>A

1 paper

NM_003898.4

p.D93G

c.278A>G

1 paper

NM_003898.4

p.F78F

c.234C>T

2 papers

NM_003898.4

p.L76fs

c.226_227fs

1 paper

NM_003898.4

p.L76delFs

c.226delC

1 paper

NM_003898.4

p.N163D

c.487A>G

1 paper

NM_003898.4

p.N163N

c.489C>T

1 paper

NM_003898.4

p.L166F

c.498G>C

1 paper

NM_003898.4

p.H173Y

c.517C>T