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

2 papers

NM_000257.4

p.Q1346E

c.4036C>G

Surrounding Variants

1 paper

NM_000257.4

p.Q1346*

c.4036C>T

2 papers

NM_000257.4

p.Y1347C

c.4040A>G

1 paper

NM_000257.4

p.R1344L

c.4031G>T

12 papers

NM_000257.4

p.R1344Q

c.4031G>A

1 paper

NM_000257.4

p.Y1347*

c.4041C>G

1 paper

NM_000257.4

p.Y1347*

c.4041C>A

1 paper

NM_000257.4

p.E1348*

c.4042G>T

1 paper

NM_000257.4

p.E1348Q

c.4042G>C

1 paper

NM_000257.4

p.E1348K

c.4042G>A

8 papers

NM_000257.4

p.R1344W

c.4030C>T

1 paper

NM_000257.4

p.E1349K

c.4045G>A

6 papers

NM_000257.4

p.E1350K

c.4048G>A