Varaico: Literature-Extracted Genetic Variants

MYH1

233 papers

RefSeq Summary

Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH)...

Pfam Domains

Myosin_Naa 33–77UCSCMyosin N-terminal SH3-like domain

Myosin_headaa 88–770UCSCMyosin head (motor domain)

Myosin_tail_1aa 847–1928UCSCMyosin tail

Gene Aliases

HGNC Name

myosin heavy chain 1

HGNC Alias Symbols

MYHSA1; MYHa; MyHC-2X/D; MGC133384

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_005963.4

p.Y435H

c.1303T>C

Surrounding Variants

4 papers

NM_005963.4

p.K432T

c.1295A>C

1 paper

NM_005963.4

p.A431V

c.1292C>T

1 paper

NM_005963.4

p.A429T

c.1285G>A

1 paper

NM_005963.4

p.G428R

c.1282G>C

2 papers

NM_005963.4

p.R445H

c.1334G>A

1 paper

NM_005963.4

p.R456W

c.1366A>T

1 paper

NM_005963.4

p.I460fs

c.1378_1379fs

1 paper

NM_005963.4

p.I460T

c.1379T>C

1 paper

NM_005963.4

p.N411K

c.1233T>G

1 paper

NM_005963.4

p.N411K

c.1233T>A

1 paper

NM_005963.4

p.G410V

c.1229G>T

1 paper

NM_005963.4

p.L390I

c.1168C>A