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

103 papers

NM_000256.3

p.E542Q

c.1624G>C

Surrounding Variants

4 papers

NM_000256.3

p.E542K

c.1624G>A

3 papers

NM_000256.3

p.E542fs

c.1624_1625fs

3 papers

NM_000256.3

p.K543fs

c.1627_1628fs

1 paper

NM_000256.3

p.K543*

c.1627A>T

2 papers

NM_000256.3

p.K543R

c.1628A>G

1 paper

NM_000256.3

p.K543K

c.1629G>A

9 papers

NM_000256.3

p.K543delFs

c.1628delT

1 paper

NM_000256.3

p.E542Splc

c.1625-6C>A

2 papers

NM_000256.3

p.E542Splc

c.1625-7C>A

1 paper

NM_000256.3

p.E542Splc

c.1625-8C>G

4 papers

NM_000256.3

p.L545M

c.1633C>A

1 paper

NM_000256.3

p.E546V

c.1637A>T