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.F456F

c.1368C>T

Surrounding Variants

4 papers

NM_000257.4

p.I457R

c.1370T>G

26 papers

NM_000257.4

p.I457T

c.1370T>C

3 papers

NM_000257.4

p.I457M

c.1371A>G

1 paper

NM_000257.4

p.F456_I457ins0

c.1366_1371dup6

1 paper

NM_000257.4

p.Y455C

c.1364A>G

1 paper

NM_000257.4

p.Y455_F456insC

c.1363_1367ins3

1 paper

NM_000257.4

p.I457_G458delFs

c.1369_1372del4

2 papers

NM_000257.4

p.V459I

c.1375G>A

1 paper

NM_000257.4

p.Q454*

c.1360C>T

1 paper

NM_000257.4

p.R453L

c.1358G>T

2 papers

NM_000257.4

p.R453P

c.1358G>C

29 papers

NM_000257.4

p.R453H

c.1358G>A