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.T105I

c.314C>T

Surrounding Variants

1 paper

NM_002478.5

p.R103H

c.308G>A

2 papers

NM_002478.5

p.C101Y

c.302G>A

1 paper

NM_002478.5

p.R110S

c.328C>A

2 papers

NM_002478.5

p.R110H

c.329G>A

1 paper

NM_002478.5

p.L94R

c.281T>G

2 papers

NM_002478.5

p.E118K

c.352G>A

1 paper

NM_002478.5

p.R119W

c.355C>T

1 paper

NM_002478.5

p.G91C

c.271G>T

1 paper

NM_002478.5

p.R121C

c.361C>T

1 paper

NM_002478.5

p.Q89P

c.266A>C

1 paper

NM_002478.5

p.R121H

c.362G>A

2 papers

NM_002478.5

p.L122M

c.364C>A