Varaico: Literature-Extracted Genetic Variants

MYH11

652 papers

RefSeq Summary

The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits an...

Pfam Domains

Myosin_Naa 31–76UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 87–771UCSCMyosin head (motor domain)

Myosin_tail_1aa 848–1928UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 11

HGNC Alias Symbols

SMMHC; SMHC; SMMS-1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002474.3

p.G258E

c.773G>A

Surrounding Variants

1 paper

NM_002474.3

p.A259S

c.775G>T

1 paper

NM_002474.3

p.I256_V257insFs

c.768_769insAG

1 paper

NM_002474.3

p.I256V

c.766A>G

1 paper

NM_002474.3

p.T263P

c.787A>C

1 paper

NM_002474.3

p.T253M

c.758C>T

1 paper

NM_002474.3

p.D251G

c.752A>G

1 paper

NM_002474.3

p.D251N

c.751G>A

1 paper

NM_002474.3

p.N249K

c.747C>G

1 paper

NM_002474.3

p.N249K

c.747C>A

1 paper

NM_002474.3

p.N249Y

c.745A>T

1 paper

NM_002474.3

p.I248T

c.743T>C

1 paper

NM_002474.3

p.R247H

c.740G>A