Varaico: Literature-Extracted Genetic Variants

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.S629S

c.1887A>T

Surrounding Variants

2 papers

NM_005460.4

p.E627K

c.1879G>A

1 paper

NM_005460.4

p.C633*

c.1899C>A

37 papers

NM_005460.4

p.R621C

c.1861C>T

1 paper

NM_005460.4

p.S616T

c.1846T>A

1 paper

NM_005460.4

p.D644N

c.1930G>A

1 paper

NM_005460.4

p.D613Y

c.1837G>T

1 paper

NM_005460.4

p.S649C

c.1946C>G

1 paper

NM_005460.4

p.P609T

c.1825C>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.E661K

c.1981G>A

1 paper

NM_005460.4

p.A665V

c.1994C>T

1 paper

NM_005460.4

p.M671L

c.2011A>C