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.T304A

c.910A>G

Surrounding Variants

1 paper

NM_003970.4

p.Q311H

c.933G>C

1 paper

NM_003970.4

p.Q311H

c.933G>T

1 paper

NM_003970.4

p.P312S

c.934C>T

1 paper

NM_003970.4

p.V295A

c.884T>C

2 papers

NM_003970.4

p.T294M

c.881C>T

1 paper

NM_003970.4

p.R290S

c.870G>C

1 paper

NM_003970.4

p.R290S

c.870G>T

1 paper

NM_003970.4

p.R318S

c.952C>A

1 paper

NM_003970.4

p.R318H

c.953G>A

1 paper

NM_003970.4

p.D277N

c.829G>A

1 paper

NM_003970.4

p.Y273H

c.817T>C

1 paper

NM_003970.4

p.I271insFs

c.811_812ins13