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.R151C

c.451C>T

Surrounding Variants

1 paper

NM_002478.5

p.N152D

c.454A>G

1 paper

NM_002478.5

p.A153T

c.457G>A

2 papers

NM_002478.5

p.A153G

c.458C>G

1 paper

NM_002478.5

p.R155C

c.463C>T

1 paper

NM_002478.5

p.R155L

c.464G>T

1 paper

NM_002478.5

p.K146insFs

c.437dupA

1 paper

NM_002478.5

p.E158K

c.472G>A

1 paper

NM_002478.5

p.R143W

c.427C>T

3 papers

NM_002478.5

p.A162V

c.485C>T

1 paper

NM_002478.5

p.S137*

c.410C>A

1 paper

NM_002478.5

p.T136T

c.408G>A

1 paper

NM_002478.5

p.C135Y

c.404G>A