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

19 papers

NM_000257.4

p.R869C

c.2605C>T

Surrounding Variants

14 papers

NM_000257.4

p.R869G

c.2605C>G

3 papers

NM_000257.4

p.R869S

c.2605C>A

2 papers

NM_000257.4

p.R869L

c.2606G>T

7 papers

NM_000257.4

p.R869P

c.2606G>C

46 papers

NM_000257.4

p.R869H

c.2606G>A

10 papers

NM_000257.4

p.A868P

c.2602G>C

44 papers

NM_000257.4

p.R870C

c.2608C>T

5 papers

NM_000257.4

p.R870L

c.2609G>T

82 papers

NM_000257.4

p.R870H

c.2609G>A

1 paper

NM_000257.4

p.R870delins

c.2608_2609delinsTT

4 papers

NM_000257.4

p.E867K

c.2599G>A

1 paper

NM_000257.4

p.S866S

c.2598C>T