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.P736S

c.2206C>T

Surrounding Variants

1 paper

NM_004533.4

p.S738G

c.2212A>G

1 paper

NM_004533.4

p.Y771H

c.2311T>C

1 paper

NM_004533.4

p.I734L

c.2200A>C

1 paper

NM_004533.4

p.P730L

c.2189C>T

2 papers

NM_004533.4

p.G706S

c.2116G>A

1 paper

NM_004533.4

p.V675I

c.2023G>A

1 paper

NM_004533.4

p.T671fs

c.2011_2012fs

1 paper

NM_004533.4

p.V670_T671insFs

c.2008_2011dup4

2 papers

NM_004533.4

p.M663T

c.1988T>C

1 paper

NM_004533.4

p.W659*

c.1977G>A

1 paper

NM_004533.4

p.W659*

c.1976G>A

1 paper

NM_004533.4

p.R646S

c.1936C>A