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

1–12 of 144 variants

26 papers

NM_003098.3

p.A390V

c.1169C>T

22 papers

NM_003098.3

p.A257G

c.770C>G

11 papers

NM_003098.3

p.T372M

c.1115C>T

11 papers

NM_003098.3

p.G460S

c.1378G>A

10 papers

NM_003098.3

p.S287R

c.859A>C

10 papers

NM_003098.3

p.S287R

c.861C>G

10 papers

NM_003098.3

p.S287R

c.861C>A

8 papers

NM_003098.3

p.G54R

c.160G>C

8 papers

NM_003098.3

p.P74L

c.221C>T

8 papers

NM_003098.3

p.T262P

c.784A>C

6 papers

NM_003098.3

p.P56S

c.166C>T

5 papers

NM_003098.3

p.A261V

c.782C>T