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.E779D

c.2337G>T

Surrounding Variants

1 paper

NM_000257.4

p.E779D

c.2337G>C

3 papers

NM_000257.4

p.E779K

c.2335G>A

18 papers

NM_000257.4

p.D778E

c.2334C>G

17 papers

NM_000257.4

p.D778E

c.2334C>A

1 paper

NM_000257.4

p.L781M

c.2341C>A

16 papers

NM_000257.4

p.D778V

c.2333A>T

12 papers

NM_000257.4

p.D778G

c.2333A>G

2 papers

NM_000257.4

p.E779_L781insFs

c.2337_2341dup5

14 papers

NM_000257.4

p.L781P

c.2342T>C

2 papers

NM_000257.4

p.L781Q

c.2342T>A

1 paper

NM_000257.4

p.D778Y

c.2332G>T

3 papers

NM_000257.4

p.D778N

c.2332G>A