Varaico: Literature-Extracted Genetic Variants

MYH8

220 papers

RefSeq Summary

Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonid...

Pfam Domains

Myosin_Naa 35–79UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 90–769UCSCMyosin head (motor domain)

Myosin_tail_1aa 846–1927UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 8

HGNC Alias Symbols

MyHC-peri; MyHC-pn

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002472.3

p.V967A

c.2900T>C

Surrounding Variants

1 paper

NM_002472.3

p.C950R

c.2848T>C

1 paper

NM_002472.3

p.A941A

c.2823C>A

2 papers

NM_002472.3

p.I935V

c.2803A>G

1 paper

NM_002472.3

p.E932K

c.2794G>A

1 paper

NM_002472.3

p.E924D

c.2772G>T

1 paper

NM_002472.3

p.E924D

c.2772G>C

1 paper

NM_002472.3

p.E919Q

c.2755G>C

2 papers

NM_002472.3

p.D989E

c.2967T>G

2 papers

NM_002472.3

p.D989E

c.2967T>A

1 paper

NM_002472.3

p.L911P

c.2732T>C

1 paper

NM_002472.3

p.S996P

c.2986T>C

1 paper

NM_002472.3

p.E905insFs

c.2714dupA