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

1–12 of 294 variants

37 papers

NM_005460.4

p.R621C

c.1861C>T

6 papers

NM_005460.4

p.E709Q

c.2125G>C

4 papers

NM_005460.4

p.R33Q

c.98G>A

4 papers

NM_005460.4

p.R606Q

c.1817G>A

3 papers

NM_005460.4

p.S222L

c.665C>T

3 papers

NM_005460.4

p.P335L

c.1004C>T

2 papers

NM_005460.4

p.S19delFs

c.56delC

2 papers

NM_005460.4

p.V44A

c.131T>C

2 papers

NM_005460.4

p.V44A

c.131T>C

2 papers

NM_005460.4

p.D68N

c.202G>A

2 papers

NM_005460.4

p.D151E

c.453T>G

2 papers

NM_005460.4

p.P212P

c.636C>T