Varaico: Literature-Extracted Genetic Variants

SNTB1

76 papers

RefSeq Summary

Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Bec...

Pfam Domains

PDZaa 113–192UCSCPDZ domain

PH_17aa 237–295UCSCPH domain

PHaa 323–433UCSCPH domain

Syntrophin_4thaa 437–536UCSCSyntrophin C-terminal PH domain

Gene Aliases

HGNC Name

syntrophin beta 1

HGNC Previous Symbol

SNT2B1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_021021.4

p.S87delFs

c.261delC

Surrounding Variants

1 paper

NM_021021.4

p.P84S

c.250C>T

1 paper

NM_021021.4

p.A79V

c.236C>T

1 paper

NM_021021.4

p.D97H

c.289G>C

1 paper

NM_021021.4

p.L98P

c.293T>C

1 paper

NM_021021.4

p.V102E

c.305T>A

1 paper

NM_021021.4

p.N65S

c.194A>G

1 paper

NM_021021.4

p.N58S

c.173A>G

1 paper

NM_021021.4

p.Y57H

c.169T>C

1 paper

NM_021021.4

p.L120L

c.358C>T

1 paper

NM_021021.4

p.G122W

c.364G>T

1 paper

NM_021021.4

p.I127M

c.381C>G

1 paper

NM_021021.4

p.V37I

c.109G>A