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

26 papers

NM_003098.3

p.A390V

c.1169C>T

Surrounding Variants

1 paper

NM_003098.3

p.W392R

c.1174T>C

1 paper

NM_003098.3

p.W392R

c.1174T>A

2 papers

NM_003098.3

p.R394C

c.1180C>T

1 paper

NM_003098.3

p.R394H

c.1181G>A

1 paper

NM_003098.3

p.R394R

c.1182C>G

1 paper

NM_003098.3

p.Q395H

c.1185G>T

1 paper

NM_003098.3

p.Q395H

c.1185G>C

1 paper

NM_003098.3

p.E384Q

c.1150G>C

1 paper

NM_003098.3

p.G399G

c.1197C>T

1 paper

NM_003098.3

p.H401D

c.1201C>G

1 paper

NM_003098.3

p.R402W

c.1204C>T

1 paper

NM_003098.3

p.A403V

c.1208C>T