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

9 papers

NM_000257.4

p.E1039G

c.3116A>G

Surrounding Variants

8 papers

NM_000257.4

p.L1038P

c.3113T>C

1 paper

NM_000257.4

p.L1038_Q1040del3

c.3112_3119del9

2 papers

NM_000257.4

p.S1037Y

c.3110C>A

3 papers

NM_000257.4

p.G1036E

c.3107G>A

1 paper

NM_000257.4

p.K1043R

c.3128A>G

3 papers

NM_000257.4

p.V1044A

c.3131T>C

30 papers

NM_000257.4

p.R1045C

c.3133C>T

15 papers

NM_000257.4

p.R1045L

c.3134G>T

24 papers

NM_000257.4

p.R1045H

c.3134G>A

7 papers

NM_000257.4

p.D1033_L1034Splc

c.3100-2A>C

1 paper

NM_000257.4

p.M1046R

c.3137T>G

4 papers

NM_000257.4

p.M1046I

c.3138G>T