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.E1191K

c.3571G>A

Surrounding Variants

2 papers

NM_002474.3

p.R1188W

c.3562C>T

1 paper

NM_002474.3

p.V1194G

c.3581T>G

1 paper

NM_002474.3

p.T1187M

c.3560C>T

1 paper

NM_002474.3

p.Q1195*

c.3583C>T

1 paper

NM_002474.3

p.Q1195L

c.3584A>T

1 paper

NM_002474.3

p.E1185K

c.3553G>A

11 papers

NM_002474.3

p.K1200*

c.3598A>T

NM_001040113.2

p.K1207*

c.3619A>T

1 paper

NM_002474.3

p.H1201Q

c.3603C>G

1 paper

NM_002474.3

p.H1201Q

c.3603C>A

1 paper

NM_002474.3

p.A1202T

c.3604G>A

1 paper

NM_002474.3

p.H1201_Q1203insFs

c.3603_3607dup5

1 paper

NM_002474.3

p.Q1203fs

c.3607_3608fs