Varaico: Literature-Extracted Genetic Variants

Gene:SNCAIP
Variant:p.S587G

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.S587G
c.1759A>G
Surrounding Variants
1 paper
NM_005460.4
p.V584I
c.1750G>A
1 paper
NM_005460.4
p.A579P
c.1735G>C
1 paper
NM_005460.4
p.K575T
c.1724A>C
1 paper
NM_005460.4
p.W574*
c.1722G>A
1 paper
NM_005460.4
p.W574*
c.1721G>A
1 paper
NM_005460.4
p.S572Y
c.1715C>A
4 papers
NM_005460.4
p.R606Q
c.1817G>A
NM_001242935.3
p.R240Q
c.719G>A
1 paper
NM_005460.4
p.S566A
c.1696T>G
1 paper
NM_005460.4
p.P609T
c.1825C>A
1 paper
NM_005460.4
p.S565P
c.1693T>C
1 paper
NM_005460.4
p.D613Y
c.1837G>T
1 paper
NM_005460.4
p.S616T
c.1846T>A
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