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

2 papers

NM_002478.5

p.H88R

c.263A>G

Surrounding Variants

1 paper

NM_002478.5

p.Q89P

c.266A>C

1 paper

NM_002478.5

p.G86R

c.256G>A

1 paper

NM_002478.5

p.G86R

c.256G>C

1 paper

NM_002478.5

p.G91C

c.271G>T

1 paper

NM_002478.5

p.P84S

c.250C>T

1 paper

NM_002478.5

p.A83A

c.249G>A

1 paper

NM_002478.5

p.A83V

c.248C>T

1 paper

NM_002478.5

p.L94R

c.281T>G

1 paper

NM_002478.5

p.V81fs

c.241_242fs

1 paper

NM_002478.5

p.R76P

c.227G>C

1 paper

NM_002478.5

p.R76insFs

c.226_227ins5

1 paper

NM_002478.5

p.R76fs

c.226_227fs