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

4 papers

NM_003970.4

p.V70L

c.208G>C

Surrounding Variants

1 paper

NM_003970.4

p.V70I

c.208G>A

3 papers

NM_003970.4

p.V70F

c.208G>T

1 paper

NM_003970.4

p.V70del1

c.208_209delGTC

1 paper

NM_003970.4

p.R69W

c.205A>T

1 paper

NM_003970.4

p.C71S

c.212G>C

1 paper

NM_003970.4

p.A72V

c.215C>T

1 paper

NM_003970.4

p.A72A

c.216G>A

1 paper

NM_003970.4

p.I67L

c.199A>C

1 paper

NM_003970.4

p.I67F

c.199A>T

1 paper

NM_003970.4

p.V75L

c.223G>C

1 paper

NM_003970.4

p.V75L

c.223G>T

1 paper

NM_003970.4

p.S76R

c.226A>C