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

2 papers

NM_005460.4

p.T383N

c.1148C>A

Surrounding Variants

1 paper

NM_005460.4

p.E384*

c.1150G>T

1 paper

NM_005460.4

p.E384D

c.1152G>C

1 paper

NM_005460.4

p.E384D

c.1152G>T

1 paper

NM_005460.4

p.K385R

c.1154A>G

1 paper

NM_005460.4

p.L386L

c.1156T>C

1 paper

NM_005460.4

p.E380*

c.1138G>T

1 paper

NM_005460.4

p.N379insFs

c.1136_1137ins5

2 papers

NM_005460.4

p.L378L

c.1134C>T

1 paper

NM_005460.4

p.A389T

c.1165G>A

1 paper

NM_005460.4

p.G390S

c.1168G>A

1 paper

NM_005460.4

p.G390G

c.1170C>A

1 paper

NM_005460.4

p.E364*

c.1090G>T