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.S866P

c.2596T>C

Surrounding Variants

1 paper

NM_000257.4

p.S866A

c.2596T>G

2 papers

NM_000257.4

p.S866F

c.2597C>T

2 papers

NM_000257.4

p.S866Y

c.2597C>A

1 paper

NM_000257.4

p.S866S

c.2598C>T

3 papers

NM_000257.4

p.K865M

c.2594A>T

13 papers

NM_000257.4

p.K865R

c.2594A>G

4 papers

NM_000257.4

p.E867K

c.2599G>A

5 papers

NM_000257.4

p.K865E

c.2593A>G

1 paper

NM_000257.4

p.S851_E864del14

c.2551_2591del42

10 papers

NM_000257.4

p.A868P

c.2602G>C

1 paper

NM_000257.4

p.E864K

c.2590G>A

1 paper

NM_000257.4

p.E864fs

c.2590_2591fs