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.F499L

c.1497C>A

Surrounding Variants

1 paper

NM_000256.3

p.F499L

c.1497C>G

2 papers

NM_000256.3

p.K500Q

c.1498A>C

1 paper

NM_000256.3

p.F499L

c.1495T>C

2 papers

NM_000256.3

p.Y501H

c.1501T>C

1 paper

NM_000256.3

p.Y501C

c.1502A>G

1 paper

NM_000256.3

p.E497del1

c.1489_1491delCTC

1 paper

NM_000256.3

p.E497D

c.1491G>T

1 paper

NM_000256.3

p.E497D

c.1491G>C

6 papers

NM_000256.3

p.Y501*

c.1503C>G

6 papers

NM_000256.3

p.Y501*

c.1503C>A

1 paper

NM_000256.3

p.R502fs

c.1504_1505fs

179 papers

NM_000256.3

p.R502W

c.1504C>T