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.F864fs

c.2590_2591fs

Surrounding Variants

1 paper

NM_000256.3

p.P863_F864del1

c.2588_2590delAGG

1 paper

NM_000256.3

p.F864delFs

c.2591delA

1 paper

NM_000256.3

p.A851_F864del14

c.2551_2591del42

2 papers

NM_000256.3

p.Q862*

c.2584C>T

1 paper

NM_000256.3

p.P866S

c.2596C>T

1 paper

NM_000256.3

p.A860V

c.2579C>T

2 papers

NM_000256.3

p.I867M

c.2601C>G

1 paper

NM_000256.3

p.I867I

c.2601C>A

1 paper

NM_000256.3

p.A860D

c.2579C>A

1 paper

NM_000256.3

p.G868R

c.2602G>C

2 papers

NM_000256.3

p.G868S

c.2602G>A

2 papers

NM_000256.3

p.G868Splc

c.2602+2T>G