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.P132L

c.395C>T

Surrounding Variants

1 paper

NM_002474.3

p.P132S

c.394C>T

1 paper

NM_002474.3

p.P132A

c.394C>G

1 paper

NM_002474.3

p.P132T

c.394C>A

1 paper

NM_002474.3

p.Y134insFs

c.400_401ins4

1 paper

NM_002474.3

p.S135L

c.404C>T

1 paper

NM_002474.3

p.Y128*

c.384T>G

1 paper

NM_002474.3

p.Y128*

c.384T>A

1 paper

NM_002474.3

p.E136delFs

c.406delC

9 papers

NM_002474.3

p.P127S

c.379C>T

1 paper

NM_002474.3

p.I138insFs

c.412dupA

1 paper

NM_002474.3

p.V125insFs

c.373dupG

1 paper

NM_002474.3

p.V139V

c.417C>T