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.L160M

c.478C>A

Surrounding Variants

1 paper

NM_003970.4

p.L160L

c.480G>A

1 paper

NM_003970.4

p.R161G

c.481C>G

2 papers

NM_003970.4

p.R159W

c.475C>T

1 paper

NM_003970.4

p.R161Q

c.482G>A

1 paper

NM_003970.4

p.L157P

c.470T>C

1 paper

NM_003970.4

p.V165I

c.493G>A

1 paper

NM_003970.4

p.P154A

c.460C>G

1 paper

NM_003970.4

p.W166L

c.497G>T

1 paper

NM_003970.4

p.A153G

c.458C>G

1 paper

NM_003970.4

p.A153V

c.458C>T

1 paper

NM_003970.4

p.E167D

c.501G>C

1 paper

NM_003970.4

p.E167D

c.501G>T