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

1–12 of 130 variants

4 papers

NM_004533.4

p.T236I

c.707C>T

4 papers

NM_004533.4

p.S255T

c.764G>C

3 papers

NM_004533.4

p.V307A

c.920T>C

3 papers

NM_004533.4

p.V624I

c.1870G>A

2 papers

NM_004533.4

p.R311Q

c.932G>A

2 papers

NM_004533.4

p.A608A

c.1824G>A

2 papers

NM_004533.4

p.M663T

c.1988T>C

2 papers

NM_004533.4

p.G706S

c.2116G>A

2 papers

NM_004533.4

p.V791_E792insFs

c.2373_2374insG

2 papers

NM_004533.4

p.A1065V

c.3194C>T

2 papers

NM_004533.4

p.R1121W

c.3361C>T

1 paper

NM_004533.4

p.A7V

c.20C>T