Varaico: Literature-Extracted Genetic Variants

Gene:SYNJ2
Variant:p.I50T

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
2 papers
NM_003898.4
p.I50T
c.149T>C
Surrounding Variants
1 paper
NM_003898.4
p.E48K
c.142G>A
1 paper
NM_003898.4
p.E66K
c.196G>A
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