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.E907K

c.2719G>A

Surrounding Variants

2 papers

NM_000256.3

p.E907*

c.2719G>T

1 paper

NM_000256.3

p.E907fs

c.2719_2720fs

1 paper

NM_000256.3

p.E907G

c.2720A>G

2 papers

NM_000256.3

p.V906_E907insFs

c.2718_2719dupGG

1 paper

NM_000256.3

p.G903_E907delFs

c.2709_2719del11

2 papers

NM_000256.3

p.V906G

c.2717T>G

2 papers

NM_000256.3

p.V906delFs

c.2716delC

1 paper

NM_000256.3

p.V906_E907del2

c.2716_2720del6

2 papers

NM_000256.3

p.V906M

c.2716G>A

1 paper

NM_000256.3

p.V906fs

c.2716_2717fs

3 papers

NM_000256.3

p.S905R

c.2715C>G

4 papers

NM_000256.3

p.S905R

c.2715C>A