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

4 papers

NM_000257.4

p.N817K

c.2451C>G

Surrounding Variants

5 papers

NM_000257.4

p.N817K

c.2451C>A

6 papers

NM_000257.4

p.I818N

c.2453T>A

6 papers

NM_000257.4

p.R819W

c.2455C>T

2 papers

NM_000257.4

p.W816G

c.2446T>G

9 papers

NM_000257.4

p.R819Q

c.2456G>A

1 paper

NM_000257.4

p.A820T

c.2458G>A

1 paper

NM_000257.4

p.Q815P

c.2444A>C

2 papers

NM_000257.4

p.Q815*

c.2443C>T

4 papers

NM_000257.4

p.A820D

c.2459C>A

3 papers

NM_000257.4

p.I814S

c.2441T>G

1 paper

NM_000257.4

p.F821C

c.2462T>G

2 papers

NM_000257.4

p.F821S

c.2462T>C