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

1–12 of 129 variants

59 papers

NM_002478.5

p.L122R

c.365T>G

6 papers

NM_002478.5

p.S63*

c.188C>A

3 papers

NM_002478.5

p.A162V

c.485C>T

3 papers

NM_002478.5

p.G189A

c.566G>C

2 papers

NM_002478.5

p.E61D

c.183G>C

2 papers

NM_002478.5

p.E61D

c.183G>T

2 papers

NM_002478.5

p.F65Y

c.194T>A

2 papers

NM_002478.5

p.H88R

c.263A>G

2 papers

NM_002478.5

p.C101Y

c.302G>A

2 papers

NM_002478.5

p.R110H

c.329G>A

2 papers

NM_002478.5

p.E118K

c.352G>A

2 papers

NM_002478.5

p.L122M

c.364C>A