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.E1577fs

c.4729_4730fs

Surrounding Variants

3 papers

NM_002474.3

p.D1579N

c.4735G>A

1 paper

NM_002474.3

p.F1576_L1580delFs

c.4728_4740del13

3 papers

NM_002474.3

p.K1573E

c.4717A>G

1 paper

NM_002474.3

p.R1583W

c.4747C>T

1 paper

NM_002474.3

p.R1583Q

c.4748G>A

1 paper

NM_002474.3

p.D1584N

c.4750G>A

1 paper

NM_002474.3

p.K1590R

c.4769A>G

1 paper

NM_002474.3

p.L1563M

c.4687C>A

2 papers

NM_002474.3

p.A1561T

c.4681G>A

1 paper

NM_002474.3

p.R1596G

c.4786A>G

4 papers

NM_001040113.2

p.T1565M

c.4694C>T

NM_002474.3

p.T1558M

c.4673C>T

1 paper

NM_002474.3

p.Q1597R

c.4790A>G