Varaico: Literature-Extracted Genetic Variants

SNTA1

168 papers

RefSeq Summary

Syntrophins are cytoplasmic peripheral membrane scaffold proteins that are components of the dystrophin-associated protein complex. This gene is a member of the syntrophin gene family and encodes the ...

Pfam Domains

PDZaa 87–167UCSCPDZ domain

PH_17aa 208–266UCSCPH domain

PHaa 294–401UCSCPH domain

Syntrophin_4thaa 405–503UCSCSyntrophin C-terminal PH domain

Gene Aliases

HGNC Name

syntrophin alpha 1

HGNC Previous Symbol

SNT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003098.3

p.P449L

c.1346C>T

Surrounding Variants

2 papers

NM_003098.3

p.E451K

c.1351G>A

1 paper

NM_003098.3

p.M455T

c.1364T>C

1 paper

NM_003098.3

p.S456T

c.1366T>A

1 paper

NM_003098.3

p.S456Y

c.1367C>A

11 papers

NM_003098.3

p.G460S

c.1378G>A

1 paper

NM_003098.3

p.G460D

c.1379G>A

1 paper

NM_003098.3

p.A461V

c.1382C>T

2 papers

NM_003098.3

p.A436V

c.1307C>T

1 paper

NM_003098.3

p.L463R

c.1388T>G

1 paper

NM_003098.3

p.D467N

c.1399G>A

1 paper

NM_003098.3

p.I475_Q476Splc

c.1425+1G>A

1 paper

NM_003098.3

p.P420S

c.1258C>T