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.L832V

c.2494C>G

Surrounding Variants

1 paper

NM_005460.4

p.E826*

c.2476G>T

1 paper

NM_005460.4

p.R842S

c.2526G>C

1 paper

NM_005460.4

p.R842S

c.2526G>T

1 paper

NM_005460.4

p.E819_E820ins5

c.2455_2459ins15

1 paper

NM_005460.4

p.R846W

c.2536C>T

1 paper

NM_005460.4

p.E852K

c.2554G>A

1 paper

NM_005460.4

p.S853L

c.2558C>T

1 paper

NM_001308109.2

p.R402H

c.1205G>A

1 paper

NM_005460.4

p.R806C

c.2416C>T

1 paper

NM_005460.4

p.R859K

c.2576G>A

1 paper

NM_005460.4

p.R865Q

c.2594G>A

1 paper

NM_005460.4

p.A798G

c.2393C>G