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.F510fs

c.1528_1529fs

Surrounding Variants

1 paper

NM_004533.4

p.D513G

c.1538A>G

1 paper

NM_004533.4

p.E503K

c.1507G>A

1 paper

NM_004533.4

p.A521V

c.1562C>T

1 paper

NM_004533.4

p.E527*

c.1579G>T

1 paper

NM_004533.4

p.R491Splc

c.1473-5C>G

1 paper

NM_004533.4

p.V533I

c.1597G>A

1 paper

NM_004533.4

p.I541I

c.1623C>A

1 paper

NM_004533.4

p.V566M

c.1696G>A

1 paper

NM_004533.4

p.A576T

c.1726G>A

1 paper

NM_004533.4

p.W578C

c.1734G>C

1 paper

NM_004533.4

p.W578C

c.1734G>T

1 paper

NM_004533.4

p.R491Splc

c.1472+2T>A