Varaico: Literature-Extracted Genetic Variants

Gene:SYNJ2
Variant:p.V39L

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.V39L
c.115G>T
Surrounding Variants
1 paper
NM_003898.4
p.A2V
c.5C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."