Varaico: Literature-Extracted Genetic Variants

Gene:SNCAIP
Variant:p.M204L

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.M204L
c.610A>T
Surrounding Variants
1 paper
NM_005460.4
p.M204L
c.610A>C
1 paper
NM_005460.4
p.A205T
c.613G>A
1 paper
NM_005460.4
p.P206S
c.616C>T
1 paper
NM_005460.4
p.C208S
c.622T>A
1 paper
NM_005460.4
p.S200P
c.598T>C
1 paper
NM_005460.4
p.C208S
c.623G>C
1 paper
NM_005460.4
p.S211P
c.631T>C
1 paper
NM_005460.4
p.S211A
c.631T>G
1 paper
NM_005460.4
p.S196R
c.588T>A
1 paper
NM_005460.4
p.S196R
c.588T>G
1 paper
NM_005460.4
p.S196R
c.586A>C
1 paper
NM_005460.4
p.P212T
c.634C>A
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