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.H15L

c.44A>T

Surrounding Variants

1 paper

NM_003970.4

p.H15Y

c.43C>T

1 paper

NM_003970.4

p.F16L

c.48C>A

1 paper

NM_003970.4

p.D17N

c.49G>A

1 paper

NM_003970.4

p.H13L

c.38A>T

2 papers

NM_003970.4

p.Q18*

c.52C>T

1 paper

NM_003970.4

p.Q18P

c.53A>C

1 paper

NM_003970.4

p.Q18L

c.53A>T

1 paper

NM_003970.4

p.K11N

c.33G>T

1 paper

NM_003970.4

p.Q10R

c.29A>G

1 paper

NM_003970.4

p.Y20C

c.59A>G

1 paper

NM_003970.4

p.Q10L

c.29A>T

1 paper

NM_003970.4

p.Y20*

c.60C>A