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

11 papers

NM_002474.3

p.N822K

c.2466C>G

Surrounding Variants

11 papers

NM_002474.3

p.N822K

c.2466C>A

1 paper

NM_002474.3

p.A824P

c.2470G>C

1 paper

NM_002474.3

p.A824T

c.2470G>A

1 paper

NM_002474.3

p.A824A

c.2472C>T

1 paper

NM_002474.3

p.Q820*

c.2458C>T

1 paper

NM_002474.3

p.L827fs

c.2479_2480fs

1 paper

NM_002474.3

p.M816K

c.2447T>A

1 paper

NM_002474.3

p.L829Q

c.2486T>A

1 paper

NM_002474.3

p.L829_R830insFs

c.2486_2489dup4

1 paper

NM_002474.3

p.T814I

c.2441C>T

1 paper

NM_002474.3

p.T814A

c.2440A>G

1 paper

NM_002474.3

p.N831N

c.2493C>T