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.L889H

c.2666T>A

Surrounding Variants

2 papers

NM_000257.4

p.L889F

c.2665C>T

1 paper

NM_000257.4

p.L889V

c.2665C>G

1 paper

NM_000257.4

p.Q888H

c.2664G>T

1 paper

NM_000257.4

p.Q888H

c.2664G>C

4 papers

NM_000257.4

p.Q890P

c.2669A>C

1 paper

NM_000257.4

p.Q888K

c.2662C>A

2 papers

NM_000257.4

p.L887R

c.2660T>G

3 papers

NM_000257.4

p.Q892K

c.2674C>A

1 paper

NM_000257.4

p.V891delFs

c.2673delC

3 papers

NM_000257.4

p.N885K

c.2655T>G

4 papers

NM_000257.4

p.N885K

c.2655T>A

4 papers

NM_000257.4

p.K884del1

c.2650_2651delCTT