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.F73L

c.217T>C

Surrounding Variants

1 paper

NM_005460.4

p.K72R

c.215A>G

1 paper

NM_005460.4

p.F73L

c.219C>A

1 paper

NM_005460.4

p.F73L

c.219C>G

1 paper

NM_005460.4

p.P75S

c.223C>T

1 paper

NM_005460.4

p.R78W

c.232C>T

2 papers

NM_005460.4

p.D68N

c.202G>A

1 paper

NM_005460.4

p.A67A

c.201T>C

1 paper

NM_005460.4

p.A67T

c.199G>A

1 paper

NM_005460.4

p.I66I

c.198C>T

1 paper

NM_005460.4

p.S80P

c.238T>C

1 paper

NM_005460.4

p.T64S

c.190A>T

1 paper

NM_005460.4

p.P63S

c.187C>T