Varaico: Literature-Extracted Genetic Variants

MYOD1

186 papers

RefSeq Summary

This gene encodes a nuclear protein that belongs to the basic helix-loop-helix family of transcription factors and the myogenic factors subfamily. It regulates muscle cell differentiation by inducing ...

Pfam Domains

Basicaa 27–109UCSCMyogenic Basic domain

HLHaa 110–161UCSCHelix-loop-helix DNA-binding domain

Myf5aa 191–259UCSCMyogenic determination factor 5

Gene Aliases

HGNC Name

myogenic differentiation 1

HGNC Previous Symbol

MYF3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002478.5

p.G189A

c.566G>C

Surrounding Variants

1 paper

NM_002478.5

p.G190G

c.570C>T

1 paper

NM_002478.5

p.R188fs

c.562_563fs

1 paper

NM_002478.5

p.H192N

c.574C>A

1 paper

NM_002478.5

p.H192Y

c.574C>T

1 paper

NM_002478.5

p.H192R

c.575A>G

1 paper

NM_002478.5

p.Y193insFs

c.577dupT

2 papers

NM_002478.5

p.P186insFs

c.557dupC

1 paper

NM_002478.5

p.S194N

c.581G>A

1 paper

NM_002478.5

p.D196Y

c.586G>T

1 paper

NM_002478.5

p.P181L

c.542C>T

1 paper

NM_002478.5

p.D198Y

c.592G>T

1 paper

NM_002478.5

p.S201N

c.602G>A