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.E1132K

c.3394G>A

Surrounding Variants

1 paper

NM_004533.4

p.A1129V

c.3386C>T

1 paper

NM_004533.4

p.L1135L

c.3405G>A

2 papers

NM_004533.4

p.R1121W

c.3361C>T

1 paper

NM_004533.4

p.C1120C

c.3360C>T

1 paper

NM_004533.4

p.Y1118S

c.3353A>C

1 paper

NM_004533.4

p.F1113Y

c.3338T>A

1 paper

NM_004533.4

p.R1108H

c.3323G>A

1 paper

NM_004533.4

p.V1102I

c.3304G>A

1 paper

NM_004533.4

p.P1092L

c.3275C>T

1 paper

NM_004533.4

p.N1084K

c.3252C>A

1 paper

NM_004533.4

p.N1084K

c.3252C>G

1 paper

NM_004533.4

p.V1080F

c.3238G>T