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

3 papers

NM_003970.4

p.E136D

c.408G>T

Surrounding Variants

3 papers

NM_003970.4

p.E136D

c.408G>C

1 paper

NM_003970.4

p.E136A

c.407A>C

1 paper

NM_003970.4

p.A140D

c.419C>A

1 paper

NM_003970.4

p.E142A

c.425A>C

2 papers

NM_003970.4

p.H144Q

c.432C>G

1 paper

NM_003970.4

p.T145I

c.434C>T

1 paper

NM_003970.4

p.E147K

c.439G>A

2 papers

NM_003970.4

p.E148Q

c.442G>C

1 paper

NM_003970.4

p.E148A

c.443A>C

1 paper

NM_003970.4

p.I150I

c.450A>T

1 paper

NM_003970.4

p.A153G

c.458C>G

1 paper

NM_003970.4

p.A153V

c.458C>T