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.E931Q

c.2791G>C

Surrounding Variants

6 papers

NM_000257.4

p.E931K

c.2791G>A

2 papers

NM_000257.4

p.E931G

c.2792A>G

2 papers

NM_000257.4

p.E931A

c.2792A>C

2 papers

NM_000257.4

p.E930*

c.2788G>T

11 papers

NM_000257.4

p.E930Q

c.2788G>C

23 papers

NM_000257.4

p.E930K

c.2788G>A

15 papers

NM_000257.4

p.E931del1

c.2791_2793delCTC

4 papers

NM_000257.4

p.M932K

c.2795T>A

2 papers

NM_000257.4

p.E929G

c.2786A>G

1 paper

NM_000257.4

p.E929A

c.2786A>C

1 paper

NM_000257.4

p.E929*

c.2785G>T

12 papers

NM_000257.4

p.E929K

c.2785G>A