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.W979C

c.2937G>C

Surrounding Variants

1 paper

NM_004533.4

p.W979C

c.2937G>T

1 paper

NM_004533.4

p.S990I

c.2969G>T

1 paper

NM_004533.4

p.Y1007D

c.3019T>G

1 paper

NM_004533.4

p.Y1007*

c.3021C>A

1 paper

NM_004533.4

p.A1025A

c.3075C>T

1 paper

NM_004533.4

p.R1026C

c.3076C>T

1 paper

NM_004533.4

p.E1041*

c.3121G>T

1 paper

NM_004533.4

p.R1057C

c.3169C>T

2 papers

NM_004533.4

p.A1065V

c.3194C>T

1 paper

NM_004533.4

p.A955A

c.2865C>T

1 paper

NM_004533.4

p.P935fs

c.2803_2804fs

1 paper

NM_004533.4

p.P935delFs

c.2803delC