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.N1526del1

c.4576_4577delGTT

Surrounding Variants

8 papers

NM_001040113.2

p.N1533_V1534Splc

c.4599+1G>T

NM_002474.3

p.N1526_V1527Splc

c.4578+1G>T

1 paper

NM_002474.3

p.N1526_V1527Splc

c.4578+1G>C

11 papers

NM_001040114.2

p.N1533_V1534Splc

c.4599+1G>A

NM_002474.3

p.N1526_V1527Splc

c.4578+1G>A

1 paper

NM_002474.3

p.N1526_V1527Splc

c.4578+2T>G

1 paper

NM_002474.3

p.N1526_V1527Splc

c.4578+3A>G

3 papers

NM_002474.3

p.N1526_V1527Splc

c.4578+3A>C

1 paper

NM_002474.3

p.K1525N

c.4575G>T

1 paper

NM_002474.3

p.K1525N

c.4575G>C

1 paper

NM_002474.3

p.D1522D

c.4566C>T

1 paper

NM_002474.3

p.K1510R

c.4529A>G

1 paper

NM_002474.3

p.R1504G

c.4510C>G

1 paper

NM_002474.3

p.E1493K

c.4477G>A