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

5 papers

NM_000257.4

p.R1500Q

c.4499G>A

Surrounding Variants

1 paper

NM_000257.4

p.R1500L

c.4499G>T

21 papers

NM_000257.4

p.R1500P

c.4499G>C

27 papers

NM_000257.4

p.R1500W

c.4498C>T

1 paper

NM_000257.4

p.E1501*

c.4501G>T

1 paper

NM_000257.4

p.E1501K

c.4501G>A

2 papers

NM_000257.4

p.F1498_R1500del3

c.4492_4499del9

1 paper

NM_000257.4

p.E1489_R1500del12

c.4465_4499del36

3 papers

NM_000257.4

p.F1498Y

c.4493T>A

1 paper

NM_000257.4

p.T1497S

c.4490C>G

1 paper

NM_000257.4

p.T1497N

c.4490C>A

1 paper

NM_000257.4

p.T1497S

c.4489A>T

2 papers

NM_000257.4

p.N1504Y

c.4510A>T