Varaico: Literature-Extracted Genetic Variants

MYOM1

153 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 277–369UCSCImmunoglobulin I-set domain

I-setaa 405–499UCSCImmunoglobulin I-set domain

fn3aa 511–602UCSCFibronectin type III domain

fn3aa 639–730UCSCFibronectin type III domain

fn3aa 740–829UCSCFibronectin type III domain

fn3aa 933–1029UCSCFibronectin type III domain

Gene Aliases

HGNC Name

myomesin 1

HGNC Previous Names

myomesin 1 (skelemin) (185kD); myomesin 1 (skelemin) 185kDa; myomesin 1, 185kDa

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_003803.4

p.R1573Q

c.4718G>A

Surrounding Variants

1 paper

NM_003803.4

p.A1567T

c.4699G>A

1 paper

NM_003803.4

p.F1558L

c.4674C>G

1 paper

NM_003803.4

p.F1558L

c.4674C>A

2 papers

NM_003803.4

p.F1558L

c.4672T>C

1 paper

NM_003803.4

p.A1589G

c.4766C>G

1 paper

NM_003803.4

p.V1596M

c.4786G>A

2 papers

NM_003803.4

p.G1598R

c.4792G>C

3 papers

NM_003803.4

p.G1598R

c.4792G>A

1 paper

NM_003803.4

p.P1600L

c.4799C>T

1 paper

NM_003803.4

p.V1604V

c.4812G>A

1 paper

NM_003803.4

p.S1605L

c.4814C>T

2 papers

NM_003803.4

p.G1635S

c.4903G>A