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

2 papers

NM_000257.4

p.K1081E

c.3241A>G

Surrounding Variants

2 papers

NM_000257.4

p.D1077_L1080del0

c.3229_3240del12

1 paper

NM_000257.4

p.K1081R

c.3242A>G

9 papers

NM_000257.4

p.K1081K

c.3243A>G

10 papers

NM_000257.4

p.R1079Q

c.3236G>A

1 paper

NM_000257.4

p.K1082Splc

c.3245+2T>G

6 papers

NM_000257.4

p.R1079W

c.3235C>T

2 papers

NM_000257.4

p.D1077E

c.3231T>G

2 papers

NM_000257.4

p.D1077E

c.3231T>A

1 paper

NM_000257.4

p.D1077Y

c.3229G>T

1 paper

NM_000257.4

p.L1076insFs

c.3226_3227insT

1 paper

NM_000257.4

p.D1068_L1069del2

c.3202_3206del6

2 papers

NM_000257.4

p.E1070K

c.3208G>A