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

3 papers

NM_000257.4

p.H1778Q

c.5334C>G

Surrounding Variants

3 papers

NM_000257.4

p.H1778Q

c.5334C>A

3 papers

NM_000257.4

p.H1778L

c.5333A>T

4 papers

NM_000257.4

p.L1779P

c.5336T>C

2 papers

NM_000257.4

p.H1778Y

c.5332C>T

12 papers

NM_000257.4

p.A1777T

c.5329G>A

1 paper

NM_000257.4

p.S1776T

c.5327G>C

7 papers

NM_000257.4

p.R1781C

c.5341C>T

2 papers

NM_000257.4

p.R1781L

c.5342G>T

16 papers

NM_000257.4

p.R1781H

c.5342G>A

19 papers

NM_000257.4

p.S1776G

c.5326A>G

6 papers

NM_000257.4

p.M1782V

c.5344A>G

1 paper

NM_000257.4

p.M1782T

c.5345T>C