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

5 papers

NM_003803.4

p.V1490I

c.4468G>A

Surrounding Variants

1 paper

NM_003803.4

p.F1480V

c.4438T>G

1 paper

NM_003803.4

p.G1474D

c.4421G>A

1 paper

NM_003803.4

p.S1462C

c.4385C>G

1 paper

NM_003803.4

p.M1453T

c.4358T>C

1 paper

NM_003803.4

p.L1451V

c.4351C>G

1 paper

NM_003803.4

p.L1441P

c.4322T>C

2 papers

NM_003803.4

p.G1424E

c.4271G>A

1 paper

NM_003803.4

p.I1415V

c.4243A>G

1 paper

NM_003803.4

p.T1412S

c.4235C>G

1 paper

NM_003803.4

p.T1412S

c.4234A>T

1 paper

NM_003803.4

p.C1411_T1412insT

c.4231_4235ins3

2 papers

NM_003803.4

p.D1408N

c.4222G>A