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.Q288R

c.863A>G

Surrounding Variants

1 paper

NM_000257.4

p.H284_Q288delFs

c.851_864del14

1 paper

NM_000257.4

p.H284_I285delFs

c.852_855del4

1 paper

NM_000257.4

p.S291P

c.871T>C

1 paper

NM_000257.4

p.I285T

c.854T>C

6 papers

NM_000257.4

p.S291F

c.872C>T

1 paper

NM_000257.4

p.K293I

c.878A>T

3 papers

NM_000257.4

p.Y283C

c.848A>G

1 paper

NM_000257.4

p.K293T

c.878A>C

1 paper

NM_000257.4

p.Y283delFs

c.847delA

2 papers

NM_000257.4

p.D282_Y283delFs

c.846_847delAA

12 papers

NM_000257.4

p.Y283D

c.847T>G

1 paper

NM_000257.4

p.Y283H

c.847T>C