Varaico: Literature-Extracted Genetic Variants

MYBPC2

114 papers

RefSeq Summary

This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-brid...

Pfam Domains

THBaa 213–246UCSCTri-helix bundle domain

I-setaa 256–338UCSCImmunoglobulin I-set domain

I-setaa 346–435UCSCImmunoglobulin I-set domain

I-setaa 439–524UCSCImmunoglobulin I-set domain

I-setaa 548–635UCSCImmunoglobulin I-set domain

fn3aa 640–731UCSCFibronectin type III domain

Gene Aliases

HGNC Name

myosin binding protein C2

HGNC Alias Symbols

MYBPCF; MGC163408; fsMyBP-C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_004533.4

p.V624I

c.1870G>A

Surrounding Variants

1 paper

NM_004533.4

p.E626K

c.1876G>A

1 paper

NM_004533.4

p.D627E

c.1881C>A

1 paper

NM_004533.4

p.D627E

c.1881C>G

1 paper

NM_004533.4

p.V628M

c.1882G>A

1 paper

NM_004533.4

p.R615C

c.1843C>T

1 paper

NM_004533.4

p.D612H

c.1834G>C

1 paper

NM_004533.4

p.R610L

c.1829G>T

2 papers

NM_004533.4

p.A608A

c.1824G>A

1 paper

NM_004533.4

p.S607I

c.1820G>T

1 paper

NM_004533.4

p.S602N

c.1805G>A

1 paper

NM_004533.4

p.T586M

c.1757C>T

1 paper

NM_004533.4

p.E643G

c.1928A>G