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.I201T

c.602T>C

Surrounding Variants

1 paper

NM_002472.3

p.A199T

c.595G>A

1 paper

NM_002472.3

p.I195T

c.584T>C

1 paper

NM_002472.3

p.E211D

c.633A>C

1 paper

NM_002472.3

p.T180T

c.540C>A

1 paper

NM_002472.3

p.T180P

c.538A>C

1 paper

NM_002472.3

p.Q222K

c.664C>A

1 paper

NM_002472.3

p.T180Splc

c.539+1G>A

1 paper

NM_002472.3

p.T180P

c.538A>C

1 paper

NM_002472.3

p.T238T

c.714T>C

1 paper

NM_002472.3

p.V239V

c.717G>T

1 paper

NM_002472.3

p.R246S

c.736C>A

1 paper

NM_002472.3

p.T257N

c.770C>A