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.M1T

c.2T>C

Surrounding Variants

1 paper

NM_003970.4

p.M1K

c.2T>A

2 papers

NM_003970.4

p.M1R

c.2T>G

2 papers

NM_003970.4

p.M1V

c.1A>G

1 paper

NM_003970.4

p.M1I

c.3G>A

1 paper

NM_003970.4

p.M1I

c.3G>C

1 paper

NM_003970.4

p.M1I

c.3G>T

1 paper

NM_003970.4

p.L3I

c.7C>A

4 papers

NM_003970.4

p.V4E

c.11T>A

1 paper

NM_003970.4

p.V4A

c.11T>C

1 paper

NM_003970.4

p.V4V

c.12G>A

1 paper

NM_003970.4

p.T5S

c.13A>T

2 papers

NM_003970.4

p.V6I

c.16G>A