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.V1692E

c.5075T>A

Surrounding Variants

8 papers

NM_000257.4

p.V1691M

c.5071G>A

1 paper

NM_000257.4

p.R1689L

c.5066G>T

2 papers

NM_000257.4

p.R1689H

c.5066G>A

1 paper

NM_000257.4

p.T1695R

c.5084C>G

4 papers

NM_000257.4

p.R1689C

c.5065C>T

1 paper

NM_000257.4

p.R1689G

c.5065C>G

3 papers

NM_000257.4

p.R1689S

c.5065C>A

4 papers

NM_000257.4

p.E1687del1

c.5059_5060delCTC

3 papers

NM_000257.4

p.E1696D

c.5088G>T

4 papers

NM_000257.4

p.E1696D

c.5088G>C

1 paper

NM_000257.4

p.R1697W

c.5089C>T

5 papers

NM_000257.4

p.R1697Q

c.5090G>A