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.I1707T

c.5120T>C

Surrounding Variants

1 paper

NM_000257.4

p.I1707F

c.5119A>T

3 papers

NM_000257.4

p.E1708K

c.5122G>A

13 papers

NM_000257.4

p.L1706P

c.5117T>C

1 paper

NM_000257.4

p.L1706V

c.5116C>G

3 papers

NM_000257.4

p.Q1704*

c.5110C>T

1 paper

NM_000257.4

p.E1711G

c.5132A>G

1 paper

NM_000257.4

p.E1711A

c.5132A>C

5 papers

NM_000257.4

p.A1702A

c.5106G>A

37 papers

NM_000257.4

p.R1712W

c.5134C>T

56 papers

NM_000257.4

p.R1712Q

c.5135G>A

1 paper

NM_000257.4

p.A1702V

c.5105C>T

1 paper

NM_000257.4

p.R1712R

c.5136G>A