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.Y1467insFs

c.4400dupA

Surrounding Variants

1 paper

NM_002474.3

p.Y1467*

c.4401C>G

1 paper

NM_002474.3

p.Y1467fs

c.4399_4400fs

1 paper

NM_002474.3

p.Y1467*

c.4401C>A

1 paper

NM_002474.3

p.A1468A

c.4404G>A

2 papers

NM_002474.3

p.K1466Q

c.4396A>C

1 paper

NM_002474.3

p.D1469insFs

c.4406dupA

1 paper

NM_002474.3

p.N1462fs

c.4384_4385fs

1 paper

NM_002474.3

p.N1462insFs

c.4385dupA

1 paper

NM_002474.3

p.N1462I

c.4385A>T

1 paper

NM_001040114.2

p.A1465A

c.4395C>G

1 paper

NM_002474.3

p.Q1455_L1456Splc

c.4366-1G>A

1 paper

NM_002474.3

p.K1481M

c.4442A>T