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.E144*

c.430G>T

Surrounding Variants

1 paper

NM_005460.4

p.E144V

c.431A>T

1 paper

NM_005460.4

p.E142D

c.426A>C

1 paper

NM_005460.4

p.E142D

c.426A>T

1 paper

NM_005460.4

p.M150I

c.450G>A

1 paper

NM_005460.4

p.M150I

c.450G>C

1 paper

NM_005460.4

p.M150I

c.450G>T

1 paper

NM_005460.4

p.D151Y

c.451G>T

1 paper

NM_005460.4

p.D151E

c.453T>A

2 papers

NM_005460.4

p.D151E

c.453T>G

1 paper

NM_005460.4

p.S134F

c.401C>T

1 paper

NM_005460.4

p.G128V

c.383G>T

1 paper

NM_005460.4

p.K160*

c.478A>T