Varaico: Literature-Extracted Genetic Variants

MYOM2

562 papers

RefSeq Summary

The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line...

Pfam Domains

I-setaa 154–246UCSCImmunoglobulin I-set domain

I-setaa 278–372UCSCImmunoglobulin I-set domain

fn3aa 384–475UCSCFibronectin type III domain

fn3aa 512–603UCSCFibronectin type III domain

fn3aa 613–702UCSCFibronectin type III domain

fn3aa 712–803UCSCFibronectin type III domain

Gene Aliases

HGNC Name

myomesin 2

HGNC Previous Names

myomesin (M-protein) 2 (165kD); myomesin (M-protein) 2, 165kDa

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003970.4

p.Q933*

c.2797C>T

Surrounding Variants

1 paper

NM_003970.4

p.A938V

c.2813C>T

1 paper

NM_003970.4

p.Y927C

c.2780A>G

1 paper

NM_003970.4

p.S939Y

c.2816C>A

1 paper

NM_003970.4

p.S939F

c.2816C>T

1 paper

NM_003970.4

p.G924G

c.2772C>T

1 paper

NM_003970.4

p.Q923Q

c.2769A>G

1 paper

NM_003970.4

p.E922*

c.2764G>T

1 paper

NM_003970.4

p.S946Y

c.2837C>A

1 paper

NM_003970.4

p.S917C

c.2749A>T

1 paper

NM_003970.4

p.T960I

c.2879C>T

1 paper

NM_003970.4

p.K966K

c.2898G>A

1 paper

NM_003970.4

p.Y968H

c.2902T>C