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

1 paper

NM_003803.4

p.E784K

c.2350G>A

Surrounding Variants

1 paper

NM_003803.4

p.R795*

c.2383C>T

1 paper

NM_003803.4

p.S758L

c.2273C>T

1 paper

NM_003803.4

p.A741P

c.2221G>C

1 paper

NM_003803.4

p.T727T

c.2181G>A

2 papers

NM_003803.4

p.T727A

c.2179A>G

1 paper

NM_003803.4

p.R713L

c.2138G>T

1 paper

NM_003803.4

p.R711H

c.2132G>A

1 paper

NM_003803.4

p.F710F

c.2130C>T

4 papers

NM_003803.4

p.E704K

c.2110G>A

2 papers

NM_003803.4

p.R696H

c.2087G>A

1 paper

NM_003803.4

p.R696G

c.2086C>G

2 papers

NM_003803.4

p.T688S

c.2062A>T