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.T370M

c.1109C>T

Surrounding Variants

11 papers

NM_003098.3

p.T372M

c.1115C>T

1 paper

NM_003098.3

p.L368M

c.1102C>A

1 paper

NM_003098.3

p.R373H

c.1118G>A

1 paper

NM_003098.3

p.A367V

c.1100C>T

1 paper

NM_003098.3

p.G375S

c.1123G>A

4 papers

NM_003098.3

p.E363A

c.1088A>C

1 paper

NM_003098.3

p.S357A

c.1069T>G

1 paper

NM_003098.3

p.E384Q

c.1150G>C

26 papers

NM_003098.3

p.A390V

c.1169C>T

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