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.G446V

c.1337G>T

Surrounding Variants

1 paper

NM_003970.4

p.G446E

c.1337G>A

1 paper

NM_003970.4

p.S452F

c.1355C>T

3 papers

NM_003970.4

p.Y453F

c.1358A>T

2 papers

NM_003970.4

p.A435P

c.1303G>C

4 papers

NM_003970.4

p.D434E

c.1302T>A

1 paper

NM_003970.4

p.N433K

c.1299T>A

2 papers

NM_003970.4

p.C432G

c.1294T>G

2 papers

NM_003970.4

p.S466R

c.1396A>C

2 papers

NM_003970.4

p.S466R

c.1398C>A

2 papers

NM_003970.4

p.S466R

c.1398C>G

1 paper

NM_003970.4

p.D473A

c.1418A>C

1 paper

NM_003970.4

p.A477T

c.1429G>A