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.K1761R

c.5282A>G

Surrounding Variants

1 paper

NM_002474.3

p.V1759V

c.5277C>T

11 papers

NM_002474.3

p.R1758Q

c.5273G>A

1 paper

NM_002474.3

p.R1758W

c.5272C>T

1 paper

NM_002474.3

p.Q1765*

c.5293C>T

1 paper

NM_002474.3

p.Q1765_A1766Splc

c.5295+1G>C

1 paper

NM_002474.3

p.A1754P

c.5260G>C

1 paper

NM_002474.3

p.Q1749P

c.5246A>C

1 paper

NM_002474.3

p.E1747Q

c.5239G>C

1 paper

NM_002474.3

p.E1743K

c.5227G>A

2 papers

NM_002474.3

p.E1742D

c.5226G>T

2 papers

NM_002474.3

p.E1742D

c.5226G>C

1 paper

NM_002474.3

p.R1737Q

c.5210G>A