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.S269L

c.806C>T

Surrounding Variants

4 papers

NM_000256.3

p.S269*

c.806C>G

4 papers

NM_000256.3

p.S269*

c.806C>A

1 paper

NM_000256.3

p.A270P

c.808G>C

1 paper

NM_000256.3

p.L267delFs

c.801delG

1 paper

NM_000256.3

p.A270fs

c.808_809fs

1 paper

NM_000256.3

p.F271L

c.811T>C

3 papers

NM_000256.3

p.L267V

c.799C>G

1 paper

NM_000256.3

p.F271L

c.813C>G

1 paper

NM_000256.3

p.F271L

c.813C>A

28 papers

NM_000256.3

p.R272C

c.814C>T

1 paper

NM_000256.3

p.R272H

c.815G>A

8 papers

NM_000256.3

p.D266V

c.797A>T