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.L28P

c.83T>C

Surrounding Variants

1 paper

NM_003970.4

p.L28M

c.82C>A

1 paper

NM_003970.4

p.Y27*

c.81C>A

1 paper

NM_003970.4

p.L29Q

c.86T>A

1 paper

NM_003970.4

p.R26R

c.78G>A

1 paper

NM_003970.4

p.D30E

c.90C>A

1 paper

NM_003970.4

p.E31del1

c.91_92delGAA

1 paper

NM_003970.4

p.E31A

c.92A>C

1 paper

NM_003970.4

p.E31V

c.92A>T

1 paper

NM_003970.4

p.Y32F

c.95A>T

1 paper

NM_003970.4

p.Q24K

c.70C>A

1 paper

NM_003970.4

p.A33T

c.97G>A

1 paper

NM_003970.4

p.K35I

c.104A>T