Varaico: Literature-Extracted Genetic Variants

Gene:MYOM2

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
1–12 of 413 variants
6 papers
NM_003970.4
p.A197V
c.590C>T
5 papers
NM_003970.4
p.G1107A
c.3320G>C
4 papers
NM_003970.4
p.V4E
c.11T>A
4 papers
NM_003970.4
p.V70L
c.208G>C
4 papers
NM_003970.4
p.D434E
c.1302T>A
4 papers
NM_003970.4
p.W632*
c.1896G>A
4 papers
NM_003970.4
p.A707T
c.2119G>A
4 papers
NM_003970.4
p.T1302A
c.3904A>G
3 papers
NM_003970.4
p.V70F
c.208G>T
3 papers
NM_003970.4
p.E136D
c.408G>C
3 papers
NM_003970.4
p.E136D
c.408G>T
3 papers
NM_003970.4
p.A219V
c.656C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."