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.Q998_G999Splc

c.2994+2T>C

Surrounding Variants

3 papers

NM_000256.3

p.Q998_G999Splc

c.2994+1G>A

1 paper

NM_000256.3

p.Q998fs

c.2992_2993fs

1 paper

NM_000256.3

p.Q998insFs

c.2992_2993dupCA

2 papers

NM_000256.3

p.Q998Q

c.2994G>A

13 papers

NM_000256.3

p.Q998R

c.2993A>G

6 papers

NM_000256.3

p.Q998*

c.2992C>T

48 papers

NM_000256.3

p.Q998E

c.2992C>G

2 papers

NM_000256.3

p.F997L

c.2991C>G

2 papers

NM_000256.3

p.F997L

c.2991C>A

2 papers

NM_000256.3

p.F997L

c.2989T>C

1 paper

NM_000256.3

p.P996H

c.2987C>A

7 papers

NM_000256.3

p.L994F

c.2980C>T