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

5 papers

NM_000257.4

p.R1697Q

c.5090G>A

Surrounding Variants

1 paper

NM_000257.4

p.R1697W

c.5089C>T

3 papers

NM_000257.4

p.E1696D

c.5088G>T

4 papers

NM_000257.4

p.E1696D

c.5088G>C

2 papers

NM_000257.4

p.R1699Q

c.5096G>A

1 paper

NM_000257.4

p.T1695R

c.5084C>G

1 paper

NM_000257.4

p.K1700E

c.5098A>G

1 paper

NM_000257.4

p.K1700_L1701del2

c.5098_5102del6

3 papers

NM_000257.4

p.V1692E

c.5075T>A

1 paper

NM_000257.4

p.A1702V

c.5105C>T

5 papers

NM_000257.4

p.A1702A

c.5106G>A

8 papers

NM_000257.4

p.V1691M

c.5071G>A

3 papers

NM_000257.4

p.Q1704*

c.5110C>T