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.A242T

c.724G>A

Surrounding Variants

1 paper

NM_003970.4

p.A242G

c.725C>G

1 paper

NM_003970.4

p.A243A

c.729G>A

1 paper

NM_003970.4

p.V245M

c.733G>A

1 paper

NM_003970.4

p.N233S

c.698A>G

3 papers

NM_003970.4

p.A219V

c.656C>T

1 paper

NM_003970.4

p.G251V

c.752G>T

1 paper

NM_003970.4

p.E254A

c.761A>C

1 paper

NM_003970.4

p.P262L

c.785C>T

1 paper

NM_003970.4

p.G264delFs

c.791delG

1 paper

NM_003970.4

p.G264fs

c.790_791fs

1 paper

NM_003970.4

p.P266fs

c.796_797fs

1 paper

NM_003970.4

p.P266insFs

c.796_797ins14