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.K999T

c.2996A>C

Surrounding Variants

1 paper

NM_002472.3

p.K1000T

c.2999A>C

1 paper

NM_002472.3

p.S996P

c.2986T>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.V967A

c.2900T>C

1 paper

NM_002472.3

p.G1039G

c.3117G>A

1 paper

NM_002472.3

p.R1048*

c.3142C>T

1 paper

NM_002472.3

p.M1049V

c.3145A>G

1 paper

NM_002472.3

p.C950R

c.2848T>C

1 paper

NM_002472.3

p.R1048_A1054del0

c.3142_3162del21

1 paper

NM_002472.3

p.A941A

c.2823C>A

1 paper

NM_002472.3

p.G1060C

c.3178G>T