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

1–12 of 220 variants

6 papers

NM_003803.4

p.V1663M

c.4987G>A

5 papers

NM_003803.4

p.S47G

c.139A>G

5 papers

NM_003803.4

p.S181P

c.541T>C

5 papers

NM_003803.4

p.E247K

c.739G>A

5 papers

NM_003803.4

p.V1490I

c.4468G>A

4 papers

NM_003803.4

p.E704K

c.2110G>A

3 papers

NM_003803.4

p.I960T

c.2879T>C

3 papers

NM_003803.4

p.R1573Q

c.4718G>A

3 papers

NM_003803.4

p.G1598R

c.4792G>A

2 papers

NM_003803.4

p.R144Splc

c.432-1G>T

2 papers

NM_003803.4

p.T180I

c.539C>T

2 papers

NM_003803.4

p.T197M

c.590C>T