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

3 papers

NM_000256.3

p.E894G

c.2681A>G

Surrounding Variants

1 paper

NM_000256.3

p.E894D

c.2682G>T

2 papers

NM_000256.3

p.E894fs

c.2680_2681fs

2 papers

NM_000256.3

p.R895C

c.2683C>T

2 papers

NM_000256.3

p.P893insFs

c.2678dupC

1 paper

NM_000256.3

p.P893delFs

c.2678delG

3 papers

NM_000256.3

p.R895L

c.2684G>T

6 papers

NM_000256.3

p.R895H

c.2684G>A

1 paper

NM_000256.3

p.P893R

c.2678C>G

1 paper

NM_000256.3

p.P893Q

c.2678C>A

1 paper

NM_000256.3

p.P893S

c.2677C>T

2 papers

NM_000256.3

p.P893fs

c.2677_2678fs

41 papers

NM_000256.3

p.V896M

c.2686G>A