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.Y30H

c.88T>C

Surrounding Variants

1 paper

NM_002478.5

p.F29F

c.87C>T

1 paper

NM_002478.5

p.D31H

c.91G>C

1 paper

NM_002478.5

p.D32N

c.94G>A

1 paper

NM_002478.5

p.D36Y

c.106G>T

1 paper

NM_002478.5

p.P38A

c.112C>G

1 paper

NM_002478.5

p.S19S

c.57T>G

1 paper

NM_002478.5

p.D17D

c.51C>T

1 paper

NM_002478.5

p.D17fs

c.49_50fs

1 paper

NM_002478.5

p.E44K

c.130G>A

1 paper

NM_002478.5

p.D45N

c.133G>A

1 paper

NM_002478.5

p.A15delFs

c.44delC

1 paper

NM_002478.5

p.T14K

c.41C>A