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

9 papers

NM_002474.3

p.A1234T

c.3700G>A

Surrounding Variants

1 paper

NM_002474.3

p.L1236L

c.3706C>T

1 paper

NM_002474.3

p.G1238R

c.3712G>C

1 paper

NM_002474.3

p.G1238R

c.3712G>A

1 paper

NM_002474.3

p.V1242A

c.3725T>C

4 papers

NM_002474.3

p.L1243P

c.3728T>C

1 paper

NM_002474.3

p.Q1245H

c.3735G>T

1 paper

NM_002474.3

p.Q1245Q

c.3735G>A

1 paper

NM_001040113.2

p.A1253del1

c.3757_3758delGGC

1 paper

NM_002474.3

p.K1247N

c.3741G>T

1 paper

NM_002474.3

p.K1247N

c.3741G>C

6 papers

NM_002474.3

p.K1256Q

c.3766A>C

19 papers

NM_002474.3

p.K1256del1

c.3766_3767delCTT

NM_001040113.2

p.K1253del1

c.3757_3759delCTT