Varaico: Literature-Extracted Genetic Variants

MYH7

2,286 papers

RefSeq Summary

Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit o...

Pfam Domains

Myosin_Naa 32–76UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 87–766UCSCMyosin head (motor domain)

Myosin_tail_1aa 843–1924UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 7

HGNC Previous Symbols

CMH1; MPD1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_000257.4

p.R204L

c.611G>T

Surrounding Variants

34 papers

NM_000257.4

p.R204H

c.611G>A

6 papers

NM_000257.4

p.R204C

c.610C>T

1 paper

NM_000257.4

p.R204S

c.610C>A

1 paper

NM_000257.4

p.S205C

c.613A>T

1 paper

NM_000257.4

p.D203N

c.607G>A

1 paper

NM_000257.4

p.K206Q

c.616A>C

1 paper

NM_000257.4

p.G202E

c.605G>A

1 paper

NM_000257.4

p.G202R

c.604G>A

13 papers

NM_000257.4

p.K207Q

c.619A>C

33 papers

NM_000257.4

p.I201T

c.602T>C

1 paper

NM_000257.4

p.I201N

c.602T>A

1 paper

NM_000257.4

p.K207T

c.620A>C