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.R1637C

c.4909C>T

Surrounding Variants

1 paper

NM_002472.3

p.Y1646_Q1650del5

c.4936_4949del15

2 papers

NM_002472.3

p.M1621I

c.4863G>T

2 papers

NM_002472.3

p.M1621I

c.4863G>C

2 papers

NM_002472.3

p.M1621I

c.4863G>A

1 paper

NM_002472.3

p.R1616S

c.4848A>T

1 paper

NM_002472.3

p.R1616S

c.4848A>C

1 paper

NM_002472.3

p.D1605N

c.4813G>A

2 papers

NM_002472.3

p.R1595T

c.4784G>C

1 paper

NM_002472.3

p.A1580T

c.4738G>A

1 paper

NM_002472.3

p.D1576Y

c.4726G>T

1 paper

NM_002472.3

p.R1563H

c.4688G>A

1 paper

NM_002472.3

p.K1654_E1655Splc

c.4963-82C>T