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

6 papers

NM_003098.3

p.P56S

c.166C>T

Surrounding Variants

1 paper

NM_003098.3

p.A55T

c.163G>A

8 papers

NM_003098.3

p.G54R

c.160G>C

1 paper

NM_003098.3

p.E60D

c.180G>C

1 paper

NM_003098.3

p.A55_Q63delFs

c.165_187del23

1 paper

NM_003098.3

p.G47C

c.139G>T

1 paper

NM_003098.3

p.E69K

c.205G>A

8 papers

NM_003098.3

p.P74L

c.221C>T

1 paper

NM_003098.3

p.E37K

c.109G>A

1 paper

NM_003098.3

p.A36T

c.106G>A

1 paper

NM_003098.3

p.R85Q

c.254G>A

1 paper

NM_003098.3

p.R87C

c.259C>T

1 paper

NM_003098.3

p.R87L

c.260G>T