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.K275N

c.825G>C

Surrounding Variants

1 paper

NM_004533.4

p.K275N

c.825G>T

1 paper

NM_004533.4

p.P264L

c.791C>T

1 paper

NM_004533.4

p.P264T

c.790C>A

1 paper

NM_004533.4

p.P298S

c.892C>T

4 papers

NM_004533.4

p.S255T

c.764G>C

1 paper

NM_004533.4

p.A248T

c.742G>A

1 paper

NM_004533.4

p.M241T

c.722T>C

4 papers

NM_004533.4

p.T236I

c.707C>T

1 paper

NM_004533.4

p.E305D

c.915G>C

1 paper

NM_004533.4

p.E305D

c.915G>T

3 papers

NM_004533.4

p.V307A

c.920T>C

2 papers

NM_004533.4

p.R311Q

c.932G>A