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.H1283delins

c.3848_3849delinsCA

Surrounding Variants

1 paper

NM_002474.3

p.H1283P

c.3848A>C

2 papers

NM_002474.3

p.Q1286*

c.3856C>T

4 papers

NM_001040113.2

p.Q1293_N1294Splc

c.3879+1G>A

NM_002474.3

p.Q1286_N1287Splc

c.3858+1G>A

2 papers

NM_001040113.2

p.Q1293del1

c.3877_3878delCTG

NM_002474.3

p.Q1286del1

c.3856_3857delCTG

9 papers

NM_002474.3

p.R1275L

c.3824G>T

1 paper

NM_002474.3

p.R1273L

c.3818G>T

1 paper

NM_002474.3

p.R1273Q

c.3818G>A

1 paper

NM_002474.3

p.S1269T

c.3806G>C

1 paper

NM_002474.3

p.S1269G

c.3805A>G

3 papers

NM_002474.3

p.L1264del1

c.3790_3791delCAG

17 papers

NM_002474.3

p.L1264P

c.3791T>C

NM_001040113.2

p.L1271P

c.3812T>C

1 paper

NM_002474.3

p.L1264Q

c.3791T>A