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.E30A

c.89A>C

Surrounding Variants

1 paper

NM_005460.4

p.E30Q

c.88G>C

4 papers

NM_005460.4

p.R33Q

c.98G>A

1 paper

NM_005460.4

p.T23S

c.67A>T

1 paper

NM_005460.4

p.V22F

c.64G>T

1 paper

NM_005460.4

p.Y20*

c.60T>A

1 paper

NM_005460.4

p.Y20*

c.60T>G

1 paper

NM_005460.4

p.E40A

c.119A>C

1 paper

NM_005460.4

p.E40G

c.119A>G

1 paper

NM_005460.4

p.Y20delFs

c.60delT

1 paper

NM_005460.4

p.Y20N

c.58T>A

1 paper

NM_005460.4

p.S19_Y20Splc

c.58-1G>T

1 paper

NM_005460.4

p.D41Y

c.121G>T