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

1–12 of 974 variants

28 papers

NM_002474.3

p.R247C

c.739C>T

17 papers

NM_002474.3

p.K1256del1

c.3766_3767delCTT

16 papers

NM_002474.3

p.L1264P

c.3791T>C

11 papers

NM_002474.3

p.N822K

c.2466C>G

11 papers

NM_002474.3

p.N822K

c.2466C>A

11 papers

NM_002474.3

p.R1535Q

c.4604G>A

11 papers

NM_002474.3

p.R1758Q

c.5273G>A

10 papers

NM_002474.3

p.K1200*

c.3598A>T

10 papers

NM_002474.3

p.N1526_V1527Splc

c.4578+1G>A

9 papers

NM_002474.3

p.P127S

c.379C>T

9 papers

NM_002474.3

p.A1234T

c.3700G>A

9 papers

NM_002474.3

p.R1275L

c.3824G>T