Varaico: Literature-Extracted Genetic Variants

SNTB2

40 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 115–195UCSCPDZ domain

PH_17aa 239–297UCSCPH domain

PHaa 326–437UCSCPH domain

Syntrophin_4thaa 441–538UCSCSyntrophin C-terminal PH domain

Gene Aliases

HGNC Name

syntrophin beta 2

HGNC Previous Symbols

SNT2B2; SNTL; D16S2531E

Papers

RefSeq ID

Protein change

DNA change

1–12 of 45 variants

2 papers

NM_006750.4

p.N167K

c.501C>A

2 papers

NM_006750.4

p.N167K

c.501C>G

1 paper

NM_006750.4

p.M1I

c.3G>A

1 paper

NM_006750.4

p.G13E

c.38G>A

1 paper

NM_006750.4

p.A22T

c.64G>A

1 paper

NM_006750.4

p.K24insFs

c.70_71insG

1 paper

NM_006750.4

p.L50M

c.148C>A

1 paper

NM_006750.4

p.T51P

c.151A>C

1 paper

NM_006750.4

p.A57V

c.170C>T

1 paper

NM_006750.4

p.G64A

c.191G>C

1 paper

NM_006750.4

p.A68V

c.203C>T

1 paper

NM_006750.4

p.G77delFs

c.230delG