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

1 paper

NM_004533.4

p.P828L

c.2483C>T

Surrounding Variants

1 paper

NM_004533.4

p.E833K

c.2497G>A

1 paper

NM_004533.4

p.R810*

c.2428C>T

1 paper

NM_004533.4

p.I807M

c.2421C>G

1 paper

NM_004533.4

p.I807T

c.2420T>C

2 papers

NM_004533.4

p.V791_E792insFs

c.2373_2374insG

1 paper

NM_004533.4

p.P843S

c.2527C>T

1 paper

NM_004533.4

p.P880Q

c.2639C>A

1 paper

NM_004533.4

p.P880L

c.2639C>T

1 paper

NM_004533.4

p.E911K

c.2731G>A

1 paper

NM_004533.4

p.I916M

c.2748C>G

1 paper

NM_004533.4

p.R928C

c.2782C>T

1 paper

NM_004533.4

p.P935delFs

c.2803delC