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.K1085Splc

c.3254+1G>A

Surrounding Variants

1 paper

NM_002472.3

p.K1085Splc

c.3254+4G>A

1 paper

NM_002472.3

p.Q1078K

c.3232C>A

1 paper

NM_002472.3

p.M1072_E1073delFs

c.3216_3217delCC

1 paper

NM_002472.3

p.M1072fs

c.3214_3215fs

1 paper

NM_002472.3

p.G1060C

c.3178G>T

1 paper

NM_002472.3

p.K1086*

c.3256A>T

1 paper

NM_002472.3

p.K1086fs

c.3256_3257fs

1 paper

NM_002472.3

p.R1048_A1054del0

c.3142_3162del21

1 paper

NM_002472.3

p.K1086_E1087delFs

c.3258_3261del4

3 papers

NM_002472.3

p.I1090I

c.3270C>T

1 paper

NM_002472.3

p.M1049V

c.3145A>G

1 paper

NM_002472.3

p.R1048*

c.3142C>T