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.E235_T236insFs

c.705_706ins5

Surrounding Variants

1 paper

NM_005460.4

p.E234A

c.701A>C

1 paper

NM_005460.4

p.S239*

c.716C>A

1 paper

NM_005460.4

p.S239*

c.716C>G

1 paper

NM_005460.4

p.P240L

c.719C>T

1 paper

NM_005460.4

p.H229L

c.686A>T

1 paper

NM_005460.4

p.D227H

c.679G>C

1 paper

NM_005460.4

p.C245W

c.735T>G

1 paper

NM_005460.4

p.S247fs

c.739_740fs

3 papers

NM_005460.4

p.S222L

c.665C>T

1 paper

NM_005460.4

p.P251L

c.752C>T

1 paper

NM_005460.4

p.H217Y

c.649C>T

1 paper

NM_005460.4

p.S255C

c.763A>T