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.R810W

c.2428C>T

Surrounding Variants

1 paper

NM_003803.4

p.V814F

c.2440G>T

1 paper

NM_003803.4

p.R795Q

c.2384G>A

1 paper

NM_003803.4

p.R795*

c.2383C>T

1 paper

NM_003803.4

p.E830_V831insFs

c.2490_2491insT

2 papers

NM_003803.4

p.G836V

c.2507G>T

2 papers

NM_003803.4

p.R860H

c.2579G>A

1 paper

NM_003803.4

p.P866P

c.2598G>A

2 papers

NM_003803.4

p.S886G

c.2656A>G

1 paper

NM_003803.4

p.L891delFs

c.2673delC

1 paper

NM_003803.4

p.T894_S897del4

c.2680_2690del12

1 paper

NM_003803.4

p.E906A

c.2717A>C

1 paper

NM_003803.4

p.P910L

c.2729C>T