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

2 papers

NM_003970.4

p.D1194Y

c.3580G>T

Surrounding Variants

1 paper

NM_003970.4

p.G1196C

c.3586G>T

1 paper

NM_003970.4

p.S1191L

c.3572C>T

1 paper

NM_003970.4

p.E1214A

c.3641A>C

2 papers

NM_003970.4

p.V1168A

c.3503T>C

1 paper

NM_003970.4

p.D1167N

c.3499G>A

1 paper

NM_003970.4

p.Y1220H

c.3658T>C

1 paper

NM_003970.4

p.G1232Splc

c.3695-2A>G

1 paper

NM_003970.4

p.S1236*

c.3707C>A

1 paper

NM_003970.4

p.S1236L

c.3707C>T

1 paper

NM_003970.4

p.M1253V

c.3757A>G

1 paper

NM_003970.4

p.R1147*

c.3439C>T

1 paper

NM_003970.4

p.D1258D

c.3774C>T