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

2 papers

NM_003970.4

p.T40A

c.118A>G

Surrounding Variants

2 papers

NM_003970.4

p.S39S

c.117C>A

2 papers

NM_003970.4

p.T40I

c.119C>T

1 paper

NM_003970.4

p.Q41P

c.122A>C

1 paper

NM_003970.4

p.Q41R

c.122A>G

1 paper

NM_003970.4

p.A38T

c.112G>A

1 paper

NM_003970.4

p.S44T

c.130T>A

1 paper

NM_003970.4

p.K46R

c.137A>G

1 paper

NM_003970.4

p.S47A

c.139T>G

1 paper

NM_003970.4

p.S47F

c.140C>T

1 paper

NM_003970.4

p.L48L

c.144G>A

1 paper

NM_003970.4

p.R51R

c.153G>A

1 paper

NM_003970.4

p.S52P

c.154T>C