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.Y1301S

c.3902A>C

Surrounding Variants

1 paper

NM_003970.4

p.Y1301H

c.3901T>C

4 papers

NM_003970.4

p.T1302A

c.3904A>G

1 paper

NM_003970.4

p.D1307N

c.3919G>A

3 papers

NM_003970.4

p.C1291F

c.3872G>T

1 paper

NM_003970.4

p.Q1331Q

c.3993G>A

1 paper

NM_003970.4

p.F1333L

c.3997T>C

1 paper

NM_003970.4

p.F1333L

c.3999C>A

1 paper

NM_003970.4

p.F1333L

c.3999C>G

1 paper

NM_003970.4

p.F1338S

c.4013T>C

1 paper

NM_003970.4

p.N1342Splc

c.4025-7G>A

2 papers

NM_003970.4

p.R1343C

c.4027C>T

1 paper

NM_003970.4

p.K1380R

c.4139A>G