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.Y1852S

c.5555A>C

Surrounding Variants

1 paper

NM_000257.4

p.Y1852F

c.5555A>T

2 papers

NM_000257.4

p.Y1852*

c.5556C>G

2 papers

NM_000257.4

p.Y1852*

c.5556C>A

1 paper

NM_000257.4

p.Q1853R

c.5558A>G

1 paper

NM_000257.4

p.Q1853_T1854Splc

c.5559+4C>T

1 paper

NM_000257.4

p.Q1853_T1854Splc

c.5559+4C>G

1 paper

NM_000257.4

p.Q1853_T1854Splc

c.5559+8G>A

1 paper

NM_000257.4

p.K1848T

c.5543A>C

1 paper

NM_000257.4

p.I1847F

c.5539A>T

3 papers

NM_000257.4

p.R1846H

c.5537G>A

4 papers

NM_000257.4

p.R1846C

c.5536C>T

3 papers

NM_000257.4

p.R1845Q

c.5534G>A