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.I475_Q476Splc

c.1426-5T>C

Surrounding Variants

1 paper

NM_003098.3

p.D478H

c.1432G>C

3 papers

NM_003098.3

p.S481L

c.1442C>T

1 paper

NM_003098.3

p.S481S

c.1443G>C

2 papers

NM_003098.3

p.S495L

c.1484C>T

1 paper

NM_003098.3

p.A496P

c.1486G>C

2 papers

NM_003098.3

p.R500C

c.1498C>T

1 paper

NM_003098.3

p.G502R

c.1504G>C

1 paper

NM_003098.3

p.G502R

c.1504G>A

1 paper

NM_003098.3

p.I475_Q476Splc

c.1425+1G>A

1 paper

NM_003098.3

p.D467N

c.1399G>A

1 paper

NM_003098.3

p.L463R

c.1388T>G

1 paper

NM_003098.3

p.A461V

c.1382C>T