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.S47G

c.139A>G

Surrounding Variants

1 paper

NM_003803.4

p.Y46H

c.136T>C

1 paper

NM_003803.4

p.T44M

c.131C>T

1 paper

NM_003803.4

p.Y39Y

c.117C>T

1 paper

NM_003803.4

p.A37V

c.110C>T

1 paper

NM_003803.4

p.E57K

c.169G>A

1 paper

NM_003803.4

p.R35C

c.103C>T

1 paper

NM_003803.4

p.E32A

c.95A>C

1 paper

NM_003803.4

p.R63Q

c.188G>A

1 paper

NM_003803.4

p.R23C

c.67C>T

1 paper

NM_003803.4

p.Q71P

c.212A>C

1 paper

NM_003803.4

p.V22L

c.64G>C

1 paper

NM_003803.4

p.R18H

c.53G>A