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

11 papers

NM_000257.4

p.Y1375C

c.4124A>G

Surrounding Variants

4 papers

NM_000257.4

p.Y1375*

c.4125T>G

6 papers

NM_000257.4

p.Y1375H

c.4123T>C

4 papers

NM_000257.4

p.Y1375*

c.4125T>A

2 papers

NM_000257.4

p.E1376K

c.4126G>A

65 papers

NM_000257.4

p.T1377M

c.4130C>T

1 paper

NM_000257.4

p.T1373I

c.4118C>T

1 paper

NM_000257.4

p.T1377K

c.4130C>A

1 paper

NM_000257.4

p.A1369_R1372del4

c.4105_4115del12

2 papers

NM_000257.4

p.D1378H

c.4132G>C

2 papers

NM_000257.4

p.D1378G

c.4133A>G

1 paper

NM_000257.4

p.D1378D

c.4134C>T

2 papers

NM_000257.4

p.A1379S

c.4135G>T