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.R597Splc

c.1790+1G>T

Surrounding Variants

2 papers

NM_000256.3

p.R597Splc

c.1790+1G>C

1 paper

NM_000256.3

p.R597Splc

c.1790+1G>A

24 papers

NM_000256.3

p.R597Q

c.1790G>A

1 paper

NM_000256.3

p.R597Splc

c.1790+3G>A

13 papers

NM_000256.3

p.R597W

c.1789C>T

1 paper

NM_000256.3

p.R597_V598ins4

c.1789_1793ins12

1 paper

NM_000256.3

p.R597Splc

c.1790+4A>T

4 papers

NM_000256.3

p.R597Splc

c.1790+5G>A

13 papers

NM_000256.3

p.G596R

c.1786G>C

14 papers

NM_000256.3

p.G596R

c.1786G>A

1 paper

NM_000256.3

p.I595I

c.1785C>T

6 papers

NM_000256.3

p.I595V

c.1783A>G