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.V44A

c.131T>C

Surrounding Variants

1 paper

NM_005460.4

p.S45A

c.133T>G

1 paper

NM_005460.4

p.W49L

c.146G>T

1 paper

NM_005460.4

p.G52A

c.155G>C

1 paper

NM_005460.4

p.I57T

c.170T>C

1 paper

NM_005460.4

p.T58A

c.172A>G

1 paper

NM_005460.4

p.T60M

c.179C>T

1 paper

NM_005460.4

p.Q61*

c.181C>T

1 paper

NM_005460.4

p.Q61L

c.182A>T

1 paper

NM_005460.4

p.P63S

c.187C>T

1 paper

NM_005460.4

p.T64S

c.190A>T

1 paper

NM_005460.4

p.I66I

c.198C>T

1 paper

NM_005460.4

p.A67T

c.199G>A