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

8 papers

NM_003098.3

p.T262P

c.784A>C

Surrounding Variants

5 papers

NM_003098.3

p.A261V

c.782C>T

3 papers

NM_003098.3

p.A263S

c.787G>T

22 papers

NM_003098.3

p.A257G

c.770C>G

1 paper

NM_003098.3

p.N269N

c.807T>C

1 paper

NM_003098.3

p.D253E

c.759T>G

1 paper

NM_003098.3

p.D253E

c.759T>A

1 paper

NM_003098.3

p.V275V

c.825C>T

1 paper

NM_003098.3

p.Q280H

c.840G>T

1 paper

NM_003098.3

p.Q280H

c.840G>C

1 paper

NM_003098.3

p.D242G

c.725A>G

1 paper

NM_003098.3

p.L282Q

c.845T>A

1 paper

NM_003098.3

p.L283L

c.847T>C