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

1–12 of 239 variants

17 papers

NM_002472.3

p.R674Q

c.2021G>A

6 papers

NM_002472.3

p.C403*

c.1209C>A

6 papers

NM_002472.3

p.M1229T

c.3686T>C

4 papers

NM_002472.3

p.E1838A

c.5513A>C

3 papers

NM_002472.3

p.I1090I

c.3270C>T

3 papers

NM_002472.3

p.R1292*

c.3874C>T

3 papers

NM_002472.3

p.E1353K

c.4057G>A

3 papers

NM_002472.3

p.V1716A

c.5147T>C

3 papers

NM_002472.3

p.R1784G

c.5350C>G

2 papers

NM_002472.3

p.Q78L

c.233A>T

2 papers

NM_002472.3

p.I326T

c.977T>C

2 papers

NM_002472.3

p.R445C

c.1333C>T