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.E440*

c.1318G>T

Surrounding Variants

1 paper

NM_004533.4

p.K470N

c.1410G>C

1 paper

NM_004533.4

p.K470N

c.1410G>T

1 paper

NM_004533.4

p.I486L

c.1456A>C

1 paper

NM_004533.4

p.R491Splc

c.1472+2T>A

1 paper

NM_004533.4

p.E431K

c.1291G>A

1 paper

NM_004533.4

p.D415G

c.1244A>G

1 paper

NM_004533.4

p.A393V

c.1178C>T

1 paper

NM_004533.4

p.D389V

c.1166A>T

1 paper

NM_004533.4

p.E388D

c.1164G>C

1 paper

NM_004533.4

p.R387Q

c.1160G>A

1 paper

NM_004533.4

p.M379L

c.1135A>C

1 paper

NM_004533.4

p.M379L

c.1135A>T