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.F412fs

c.1234_1235fs

Surrounding Variants

1 paper

NM_000256.3

p.I411delFs

c.1233delG

1 paper

NM_000256.3

p.I411fs

c.1231_1232fs

1 paper

NM_000256.3

p.I411I

c.1233C>A

4 papers

NM_000256.3

p.F412fs

c.1234_1235fs

1 paper

NM_000256.3

p.E413*

c.1237G>T

2 papers

NM_000256.3

p.F412insFs

c.1236dupT

1 paper

NM_000256.3

p.E413K

c.1237G>A

9 papers

NM_000256.3

p.F412delFs

c.1235_1236delAA

2 papers

NM_000256.3

p.I411V

c.1231A>G

1 paper

NM_000256.3

p.I411insFs

c.1231_1232insT

4 papers

NM_000256.3

p.E413G

c.1238A>G

1 paper

NM_000256.3

p.Y410N

c.1228T>A