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

2 papers

NM_000256.3

p.P893fs

c.2677_2678fs

Surrounding Variants

1 paper

NM_000256.3

p.P893S

c.2677C>T

1 paper

NM_000256.3

p.P893R

c.2678C>G

1 paper

NM_000256.3

p.P893Q

c.2678C>A

2 papers

NM_000256.3

p.P893insFs

c.2678dupC

1 paper

NM_000256.3

p.P893delFs

c.2678delG

1 paper

NM_000256.3

p.P892S

c.2674C>T

1 paper

NM_000256.3

p.P892T

c.2674C>A

2 papers

NM_000256.3

p.R891delFs

c.2673delC

1 paper

NM_000256.3

p.S887_R891del5

c.2659_2672del15

5 papers

NM_000256.3

p.R891fs

c.2671_2672fs

3 papers

NM_000256.3

p.E894G

c.2681A>G

1 paper

NM_000256.3

p.E894D

c.2682G>T