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.Y203H

c.607T>C

Surrounding Variants

1 paper

NM_003970.4

p.R204T

c.611G>C

1 paper

NM_003970.4

p.G201A

c.602G>C

2 papers

NM_003970.4

p.I205F

c.613A>T

1 paper

NM_003970.4

p.P200P

c.600G>A

1 paper

NM_003970.4

p.E199D

c.597A>C

1 paper

NM_003970.4

p.E199D

c.597A>T

1 paper

NM_003970.4

p.E199A

c.596A>C

1 paper

NM_003970.4

p.S207R

c.619A>C

1 paper

NM_003970.4

p.S207R

c.621C>A

1 paper

NM_003970.4

p.S207R

c.621C>G

6 papers

NM_003970.4

p.A197V

c.590C>T

1 paper

NM_003970.4

p.Y209F

c.626A>T