Varaico: Literature-Extracted Genetic Variants

MYBPC3

1,762 papers

RefSeq Summary

MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle....

Pfam Domains

I-setaa 10–94UCSCImmunoglobulin I-set domain

I-setaa 156–256UCSCImmunoglobulin I-set domain

THBaa 320–353UCSCTri-helix bundle domain

I-setaa 363–449UCSCImmunoglobulin I-set domain

I-setaa 454–538UCSCImmunoglobulin I-set domain

I-setaa 545–628UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

myosin binding protein C3

HGNC Previous Symbol

CMH4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000256.3

p.D506G

c.1517A>G

Surrounding Variants

3 papers

NM_000256.3

p.D506delFs

c.1516delC

22 papers

NM_000256.3

p.K505del1

c.1513_1515delCTT

3 papers

NM_000256.3

p.D506E

c.1518C>G

3 papers

NM_000256.3

p.D506E

c.1518C>A

1 paper

NM_000256.3

p.D506fs

c.1516_1517fs

1 paper

NM_000256.3

p.K505_D506del1

c.1514_1516delCCT

33 papers

NM_000256.3

p.G507R

c.1519G>C

34 papers

NM_000256.3

p.G507R

c.1519G>A

1 paper

NM_000256.3

p.K505_D506del2

c.1513_1517del6

4 papers

NM_000256.3

p.K505*

c.1513A>T

2 papers

NM_000256.3

p.Q508fs

c.1522_1523fs

7 papers

NM_000256.3

p.Q508*

c.1522C>T