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.A433P

c.1297G>C

Surrounding Variants

1 paper

NM_000256.3

p.A433G

c.1298C>G

2 papers

NM_000256.3

p.D431_A432del2

c.1291_1295del6

1 paper

NM_000256.3

p.A433A

c.1299C>G

1 paper

NM_000256.3

p.A433A

c.1299C>A

1 paper

NM_000256.3

p.A433del1

c.1297_1298delGGC

1 paper

NM_000256.3

p.A432P

c.1294G>C

8 papers

NM_000256.3

p.A432T

c.1294G>A

2 papers

NM_000256.3

p.D431delFs

c.1293delG

2 papers

NM_000256.3

p.D431D

c.1293C>T

1 paper

NM_000256.3

p.D431E

c.1293C>G

1 paper

NM_000256.3

p.D431fs

c.1291_1292fs

1 paper

NM_000256.3

p.D431E

c.1293C>A