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

3 papers

NM_002472.3

p.R1784G

c.5350C>G

Surrounding Variants

1 paper

NM_002472.3

p.R1784Q

c.5351G>A

1 paper

NM_002472.3

p.K1787R

c.5360A>G

1 paper

NM_002472.3

p.T1792M

c.5375C>T

1 paper

NM_002472.3

p.R1799H

c.5396G>A

1 paper

NM_002472.3

p.D1764_A1765Splc

c.5293-1G>A

1 paper

NM_002472.3

p.A1807V

c.5420C>T

1 paper

NM_002472.3

p.K1812R

c.5435A>G

1 paper

NM_002472.3

p.Q1814K

c.5440C>A

1 paper

NM_002472.3

p.K1731K

c.5193G>A

1 paper

NM_002472.3

p.E1828Q

c.5482G>C

1 paper

NM_002472.3

p.E1828K

c.5482G>A

1 paper

NM_002472.3

p.R1835C

c.5503C>T