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

3 papers

NM_000257.4

p.E855del1

c.2563_2564delCTC

Surrounding Variants

1 paper

NM_000257.4

p.M852_E855del4

c.2554_2564del12

1 paper

NM_000257.4

p.E855fs

c.2563_2564fs

1 paper

NM_000257.4

p.F856delFs

c.2567delA

1 paper

NM_000257.4

p.T857P

c.2569A>C

1 paper

NM_000257.4

p.E854D

c.2562G>T

1 paper

NM_000257.4

p.E854D

c.2562G>C

3 papers

NM_000257.4

p.T857I

c.2570C>T

1 paper

NM_000257.4

p.F856_R858Fs

c.2566_2573delinsCGCGFs

28 papers

NM_000257.4

p.R858C

c.2572C>T

2 papers

NM_000257.4

p.R858G

c.2572C>G

2 papers

NM_000257.4

p.R858S

c.2572C>A

4 papers

NM_000257.4

p.R858L

c.2573G>T