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

11 papers

NM_000257.4

p.F244L

c.732C>G

Surrounding Variants

8 papers

NM_000257.4

p.F244F

c.732C>T

11 papers

NM_000257.4

p.F244L

c.732C>A

4 papers

NM_000257.4

p.F244C

c.731T>G

1 paper

NM_000257.4

p.F244_G245Splc

c.732+1G>T

1 paper

NM_000257.4

p.F244_G245Splc

c.732+1G>C

22 papers

NM_000257.4

p.F244_G245Splc

c.732+1G>A

1 paper

NM_000257.4

p.F244_G245Splc

c.732+2T>G

11 papers

NM_000257.4

p.F244L

c.730T>C

2 papers

NM_000257.4

p.F244_G245Splc

c.732+3G>T

3 papers

NM_000257.4

p.F244_G245Splc

c.732+3G>C

24 papers

NM_000257.4

p.R243H

c.728G>A

1 paper

NM_000257.4

p.F244_G245Splc

c.732+5G>C