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.M852L

c.2554A>C

Surrounding Variants

1 paper

NM_000257.4

p.M852L

c.2554A>T

6 papers

NM_000257.4

p.M852R

c.2555T>G

24 papers

NM_000257.4

p.M852T

c.2555T>C

2 papers

NM_000257.4

p.M852K

c.2555T>A

1 paper

NM_000257.4

p.S851S

c.2553C>A

1 paper

NM_000257.4

p.S851P

c.2551T>C

1 paper

NM_000257.4

p.K853Q

c.2557A>C

1 paper

NM_000257.4

p.K847_A850del0

c.2541_2549del9

2 papers

NM_000257.4

p.K853delFs

c.2558delT

1 paper

NM_000257.4

p.A850_E854delins

c.2548_2560delinsGGCG

1 paper

NM_000257.4

p.A850V

c.2549C>T

5 papers

NM_000257.4

p.A850D

c.2549C>A