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

1 paper

NM_002478.5

p.A170V

c.509C>T

Surrounding Variants

1 paper

NM_002478.5

p.P171S

c.511C>T

1 paper

NM_002478.5

p.A174T

c.520G>A

1 paper

NM_002478.5

p.A175T

c.523G>A

3 papers

NM_002478.5

p.A162V

c.485C>T

1 paper

NM_002478.5

p.P181L

c.542C>T

1 paper

NM_002478.5

p.E158K

c.472G>A

2 papers

NM_002478.5

p.P186insFs

c.557dupC

1 paper

NM_002478.5

p.R155L

c.464G>T

1 paper

NM_002478.5

p.R155C

c.463C>T

2 papers

NM_002478.5

p.A153G

c.458C>G

1 paper

NM_002478.5

p.A153T

c.457G>A

1 paper

NM_002478.5

p.R188fs

c.562_563fs