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.R1535W

c.4603C>T

Surrounding Variants

12 papers

NM_002474.3

p.R1535Q

c.4604G>A

NM_001040113.2

p.R1542Q

c.4625G>A

1 paper

NM_002474.3

p.K1532fs

c.4594_4595fs

1 paper

NM_002474.3

p.K1532insFs

c.4594_4595ins14

1 paper

NM_002474.3

p.K1532ins3

c.4594_4595ins9

1 paper

NM_002474.3

p.T1539N

c.4616C>A

1 paper

NM_002474.3

p.M1541T

c.4622T>C

1 paper

NM_002474.3

p.M1541I

c.4623G>T

1 paper

NM_002474.3

p.M1541I

c.4623G>C

1 paper

NM_002474.3

p.M1541I

c.4623G>A

1 paper

NM_002474.3

p.E1543K

c.4627G>A

1 paper

NM_002474.3

p.E1543A

c.4628A>C

2 papers

NM_002474.3

p.M1544I

c.4632G>T