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.S1020L

c.3059C>T

Surrounding Variants

1 paper

NM_003970.4

p.R1031Q

c.3092G>A

1 paper

NM_003970.4

p.R1033C

c.3097C>T

1 paper

NM_003970.4

p.R1033H

c.3098G>A

1 paper

NM_003970.4

p.A1045S

c.3133G>T

1 paper

NM_003970.4

p.R1048G

c.3142C>G

1 paper

NM_003970.4

p.R1048Q

c.3143G>A

1 paper

NM_003970.4

p.R1003L

c.3008G>T

1 paper

NM_003970.4

p.E1000Splc

c.2999-7G>A

1 paper

NM_003970.4

p.E1000Splc

c.2998+1G>T

1 paper

NM_003970.4

p.P998Q

c.2993C>A

1 paper

NM_003970.4

p.S991P

c.2971T>C

1 paper

NM_003970.4

p.V982M

c.2944G>A