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.M1insFs

c.2dupT

Surrounding Variants

1 paper

NM_005460.4

p.M1insFs

c.1dupA

1 paper

NM_005460.4

p.P4insFs

c.11dupC

1 paper

NM_005460.4

p.A3V

c.8C>T

1 paper

NM_005460.4

p.P4_E5insFs

c.12_13insG

1 paper

NM_005460.4

p.E5*

c.13G>T

1 paper

NM_005460.4

p.E5D

c.15A>C

1 paper

NM_005460.4

p.E5D

c.15A>T

1 paper

NM_005460.4

p.Y6_L7insFs

c.18_19insG

1 paper

NM_005460.4

p.D8insFs

c.23dupA

1 paper

NM_005460.4

p.L9del1

c.25_26delTTG

1 paper

NM_005460.4

p.D10Y

c.28G>T

1 paper

NM_005460.4

p.I12V

c.34A>G