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

1 paper

NM_000257.4

p.D282H

c.844G>C

Surrounding Variants

3 papers

NM_000257.4

p.D282Y

c.844G>T

1 paper

NM_000257.4

p.D282delFs

c.844_845delTC

19 papers

NM_000257.4

p.R281T

c.842G>C

12 papers

NM_000257.4

p.Y283D

c.847T>G

1 paper

NM_000257.4

p.Y283H

c.847T>C

3 papers

NM_000257.4

p.Y283C

c.848A>G

1 paper

NM_000257.4

p.Y283delFs

c.847delA

2 papers

NM_000257.4

p.D282_Y283delFs

c.846_847delAA

1 paper

NM_000257.4

p.A279delFs

c.835delC

3 papers

NM_000257.4

p.A279T

c.835G>A

1 paper

NM_000257.4

p.I285T

c.854T>C

4 papers

NM_000257.4

p.K278I

c.833A>T