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.E127K

c.379G>A

Surrounding Variants

1 paper

NM_002478.5

p.V125L

c.373G>T

1 paper

NM_002478.5

p.F129Y

c.386T>A

1 paper

NM_002478.5

p.K124E

c.370A>G

1 paper

NM_002478.5

p.S123C

c.367A>T

59 papers

NM_002478.5

p.L122R

c.365T>G

2 papers

NM_002478.5

p.L122M

c.364C>A

1 paper

NM_002478.5

p.R121H

c.362G>A

1 paper

NM_002478.5

p.R121C

c.361C>T

1 paper

NM_002478.5

p.R119W

c.355C>T

1 paper

NM_002478.5

p.C135Y

c.404G>A

2 papers

NM_002478.5

p.E118K

c.352G>A

1 paper

NM_002478.5

p.T136T

c.408G>A