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.K1654_E1655Splc

c.4963-82C>T

Surrounding Variants

2 papers

NM_002472.3

p.R1679H

c.5036G>A

1 paper

NM_002472.3

p.W1692R

c.5074T>C

1 paper

NM_002472.3

p.W1692R

c.5074T>A

1 paper

NM_002472.3

p.E1696*

c.5086G>T

3 papers

NM_002472.3

p.V1716A

c.5147T>C

1 paper

NM_002472.3

p.Q1722*

c.5164C>T

1 paper

NM_002472.3

p.Y1646_Q1650del5

c.4936_4949del15

1 paper

NM_002472.3

p.R1637C

c.4909C>T

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