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

4 papers

NM_003970.4

p.W632*

c.1896G>A

Surrounding Variants

2 papers

NM_003970.4

p.Q631L

c.1892A>T

1 paper

NM_003970.4

p.R634*

c.1900C>T

1 paper

NM_003970.4

p.L641P

c.1922T>C

1 paper

NM_003970.4

p.G643S

c.1927G>A

1 paper

NM_003970.4

p.R622*

c.1864C>T

1 paper

NM_003970.4

p.V646L

c.1936G>C

1 paper

NM_003970.4

p.V646L

c.1936G>T

2 papers

NM_003970.4

p.C648Y

c.1943G>A

1 paper

NM_003970.4

p.Y666H

c.1996T>C

2 papers

NM_003970.4

p.E678A

c.2033A>C

1 paper

NM_003970.4

p.E694V

c.2081A>T

1 paper

NM_003970.4

p.N695T

c.2084A>C