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

6 papers

NM_002472.3

p.M1229T

c.3686T>C

Surrounding Variants

1 paper

NM_002472.3

p.L1234F

c.3700C>T

1 paper

NM_002472.3

p.S1235I

c.3704G>T

1 paper

NM_002472.3

p.A1238T

c.3712G>A

1 paper

NM_002472.3

p.V1216L

c.3646G>C

1 paper

NM_002472.3

p.N1212Y

c.3634A>T

1 paper

NM_002472.3

p.E1208fs

c.3622_3623fs

1 paper

NM_002472.3

p.A1200T

c.3598G>A

1 paper

NM_002472.3

p.R1196Q

c.3587G>A

1 paper

NM_002472.3

p.H1188P

c.3563A>C

1 paper

NM_002472.3

p.R1178L

c.3533G>T

1 paper

NM_002472.3

p.R1178C

c.3532C>T

1 paper

NM_002472.3

p.R1170W

c.3508C>T