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

5 papers

NM_003970.4

p.G1107A

c.3320G>C

Surrounding Variants

1 paper

NM_003970.4

p.T1087I

c.3260C>T

1 paper

NM_003970.4

p.N1084S

c.3251A>G

1 paper

NM_003970.4

p.R1079*

c.3235C>T

1 paper

NM_003970.4

p.I1072V

c.3214A>G

1 paper

NM_003970.4

p.K1065K

c.3195A>G

1 paper

NM_003970.4

p.R1126G

c.3376A>G

1 paper

NM_003970.4

p.Q1128R

c.3383A>G

1 paper

NM_003970.4

p.R1147*

c.3439C>T

1 paper

NM_003970.4

p.R1048Q

c.3143G>A

1 paper

NM_003970.4

p.R1048G

c.3142C>G

1 paper

NM_003970.4

p.A1045S

c.3133G>T

1 paper

NM_003970.4

p.R1033H

c.3098G>A