Varaico: Literature-Extracted Genetic Variants

Gene:SNCAIP
Variant:p.H284N

SNCAIP

233 papers

RefSeq Summary

This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts wi...

Pfam Domains

Ank_2aa 322–415UCSCAnkyrin repeats (3 copies)
Ank_2aa 424–516UCSCAnkyrin repeats (3 copies)
SNCAIP_SNCA_bdaa 512–559UCSCSynphilin-1 alpha-Synuclein-binding domain

Gene Aliases

HGNC Name

synuclein alpha interacting protein

HGNC Alias Symbol

SYPH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005460.4
p.H284N
c.850C>A
Surrounding Variants
1 paper
NM_005460.4
p.R281fs
c.841_842fs
1 paper
NM_005460.4
p.Q279L
c.836A>T
1 paper
NM_005460.4
p.K273_T274insFs
c.819_820ins5
1 paper
NM_005460.4
p.E295*
c.883G>T
1 paper
NM_005460.4
p.E272Q
c.814G>C
1 paper
NM_005460.4
p.G268C
c.802G>T
1 paper
NM_005460.4
p.F263L
c.789T>A
1 paper
NM_005460.4
p.F263L
c.789T>G
1 paper
NM_005460.4
p.F263L
c.787T>C
1 paper
NM_005460.4
p.P309S
c.925C>T
1 paper
NM_005460.4
p.E310K
c.928G>A
1 paper
NM_005460.4
p.S255C
c.763A>T
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