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.D340H

c.1018G>C

Surrounding Variants

1 paper

NM_005460.4

p.A339_D340ins2

c.1017_1018ins6

1 paper

NM_005460.4

p.N341Y

c.1021A>T

1 paper

NM_005460.4

p.A339T

c.1015G>A

1 paper

NM_005460.4

p.D343H

c.1027G>C

1 paper

NM_005460.4

p.K344*

c.1030A>T

3 papers

NM_005460.4

p.P335L

c.1004C>T

1 paper

NM_005460.4

p.P335S

c.1003C>T

1 paper

NM_005460.4

p.H346Y

c.1036C>T

1 paper

NM_005460.4

p.G350E

c.1049G>A

1 paper

NM_005460.4

p.L353P

c.1058T>C

1 paper

NM_005460.4

p.L334_P335Splc

c.1003-26G>A

1 paper

NM_005460.4

p.A357V

c.1070C>T