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.V139V

c.417C>T

Surrounding Variants

1 paper

NM_002474.3

p.D140Y

c.418G>T

3 papers

NM_002474.3

p.D140N

c.418G>A

1 paper

NM_002474.3

p.D140fs

c.418_419fs

1 paper

NM_002474.3

p.D140E

c.420C>G

1 paper

NM_002474.3

p.D140fs

c.418_419fs

1 paper

NM_002474.3

p.D140E

c.420C>A

1 paper

NM_002474.3

p.I138insFs

c.412dupA

2 papers

NM_002474.3

p.M141T

c.422T>C

1 paper

NM_002474.3

p.D140_M141delFs

c.420_421delTG

1 paper

NM_002474.3

p.M141ins3

c.422_423ins9

1 paper

NM_002474.3

p.Y142Y

c.426C>T

1 paper

NM_002474.3

p.E136delFs

c.406delC