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.P748S

c.2242C>T

Surrounding Variants

1 paper

NM_005460.4

p.G745fs

c.2233_2234fs

1 paper

NM_005460.4

p.F735L

c.2205C>A

NM_001242935.3

p.F369L

c.1107C>A

1 paper

NM_005460.4

p.F735L

c.2205C>G

NM_001242935.3

p.F369L

c.1107C>G

1 paper

NM_005460.4

p.F735L

c.2203T>C

NM_001242935.3

p.F369L

c.1105T>C

2 papers

NM_005460.4

p.P734S

c.2200C>T

1 paper

NM_005460.4

p.Q762L

c.2285A>T

1 paper

NM_005460.4

p.R731H

c.2192G>A

1 paper

NM_005460.4

p.R731C

c.2191C>T

1 paper

NM_005460.4

p.P770L

c.2309C>T

1 paper

NM_005460.4

p.S775C

c.2324C>G

1 paper

NM_005460.4

p.D777Y

c.2329G>T

1 paper

NM_005460.4

p.Q779L

c.2336A>T