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

3 papers

NM_000256.3

p.Y434*

c.1302C>A

Surrounding Variants

3 papers

NM_000256.3

p.Y434*

c.1302C>G

7 papers

NM_000256.3

p.Q435*

c.1303C>T

1 paper

NM_000256.3

p.A433del1

c.1297_1298delGGC

1 paper

NM_000256.3

p.Q435R

c.1304A>G

1 paper

NM_000256.3

p.A433A

c.1299C>G

1 paper

NM_000256.3

p.A433A

c.1299C>A

3 papers

NM_000256.3

p.C436_V437insA

c.1306_1310ins3

1 paper

NM_000256.3

p.C436S

c.1306T>A

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.C436S

c.1307G>C

1 paper

NM_000256.3

p.A433P

c.1297G>C