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.V692G

c.2075T>G

Surrounding Variants

1 paper

NM_002472.3

p.L702M

c.2104C>A

1 paper

NM_002472.3

p.E703ins1

c.2107_2108insAGG

1 paper

NM_002472.3

p.R706H

c.2117G>A

1 paper

NM_002472.3

p.K710*

c.2128A>T

1 paper

NM_002472.3

p.G711E

c.2132G>A

1 paper

NM_002472.3

p.I716N

c.2147T>A

1 paper

NM_002472.3

p.I716I

c.2148C>A

1 paper

NM_002472.3

p.K722_Q723delFs

c.2164_2167del4

1 paper

NM_002472.3

p.T683A

c.2047A>G

1 paper

NM_002472.3

p.R674delFs

c.2022delC

1 paper

NM_002472.3

p.R674fs

c.2020_2021fs

17 papers

NM_002472.3

p.R674Q

c.2021G>A