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

2 papers

NM_003803.4

p.R144Splc

c.432-1G>T

Surrounding Variants

1 paper

NM_003803.4

p.R144C

c.430C>T

1 paper

NM_003803.4

p.T154M

c.461C>T

1 paper

NM_003803.4

p.I159_K160delFs

c.476_479del4

1 paper

NM_003803.4

p.E161K

c.481G>A

2 papers

NM_003803.4

p.T180I

c.539C>T

5 papers

NM_003803.4

p.S181P

c.541T>C

1 paper

NM_003803.4

p.T190S

c.568A>T

1 paper

NM_003803.4

p.T190S

c.569C>G

1 paper

NM_003803.4

p.T191M

c.572C>T

2 papers

NM_003803.4

p.T197M

c.590C>T

1 paper

NM_003803.4

p.A204E

c.611C>A

1 paper

NM_003803.4

p.S211del1

c.631_632delGGA