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

7 papers

NM_000257.4

p.E1387K

c.4159G>A

Surrounding Variants

2 papers

NM_000257.4

p.E1387Q

c.4159G>C

3 papers

NM_000257.4

p.L1386F

c.4156C>T

2 papers

NM_000257.4

p.E1388G

c.4163A>G

1 paper

NM_000257.4

p.A1389T

c.4165G>A

1 paper

NM_000257.4

p.E1384E

c.4152G>A

1 paper

NM_000257.4

p.A1389V

c.4166C>T

1 paper

NM_000257.4

p.E1384insFs

c.4150dupG

1 paper

NM_000257.4

p.K1390Splc

c.4169+2T>A

1 paper

NM_000257.4

p.R1382L

c.4145G>T

20 papers

NM_000257.4

p.R1382Q

c.4145G>A

1 paper

NM_000257.4

p.K1390Splc

c.4169+5G>C

1 paper

NM_000257.4

p.K1390Splc

c.4169+5G>A