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

6 papers

NM_002474.3

p.K1256Q

c.3766A>C

Surrounding Variants

19 papers

NM_002474.3

p.K1256del1

c.3766_3767delCTT

NM_001040113.2

p.K1253del1

c.3757_3759delCTT

1 paper

NM_002474.3

p.Q1262*

c.3784C>T

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

1 paper

NM_002474.3

p.K1247N

c.3741G>T

1 paper

NM_002474.3

p.K1247N

c.3741G>C

1 paper

NM_001040113.2

p.A1253del1

c.3757_3758delGGC

3 papers

NM_002474.3

p.L1264del1

c.3790_3791delCAG

1 paper

NM_002474.3

p.Q1245H

c.3735G>T

1 paper

NM_002474.3

p.Q1245Q

c.3735G>A

4 papers

NM_002474.3

p.L1243P

c.3728T>C

1 paper

NM_002474.3

p.S1269G

c.3805A>G