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

2 papers

NM_002472.3

p.Q78L

c.233A>T

Surrounding Variants

1 paper

NM_002472.3

p.Q78*

c.232C>T

1 paper

NM_002472.3

p.Q78H

c.234A>T

1 paper

NM_002472.3

p.Q78delins

c.232_234delinsTTG

1 paper

NM_002472.3

p.P81R

c.242C>G

1 paper

NM_002472.3

p.P84H

c.251C>A

1 paper

NM_002472.3

p.L105P

c.314T>C

1 paper

NM_002472.3

p.R111H

c.332G>A

1 paper

NM_002472.3

p.Y112S

c.335A>C

1 paper

NM_002472.3

p.A114G

c.341C>G

1 paper

NM_002472.3

p.Y118Y

c.354C>T

1 paper

NM_002472.3

p.Y118*

c.354C>G

1 paper

NM_002472.3

p.Y118*

c.354C>A