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.A536S

c.1606G>T

Surrounding Variants

1 paper

NM_000256.3

p.A536P

c.1606G>C

5 papers

NM_000256.3

p.A536G

c.1607C>G

2 papers

NM_000256.3

p.A536A

c.1608T>A

1 paper

NM_000256.3

p.E537*

c.1609G>T

1 paper

NM_000256.3

p.G532_A534del3

c.1594_1601del9

1 paper

NM_000256.3

p.A534V

c.1601C>T

3 papers

NM_000256.3

p.A534E

c.1601C>A

1 paper

NM_000256.3

p.L538F

c.1612C>T

3 papers

NM_000256.3

p.Q533fs

c.1597_1598fs

1 paper

NM_000256.3

p.Q533R

c.1598A>G

3 papers

NM_000256.3

p.Q533delFs

c.1597delG

1 paper

NM_000256.3

p.Q533fs

c.1597_1598fs