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.P644S

c.1930C>T

Surrounding Variants

1 paper

NM_000256.3

p.E643D

c.1929A>T

1 paper

NM_000256.3

p.E643D

c.1929A>C

1 paper

NM_000256.3

p.E643fs

c.1927_1928fs

1 paper

NM_000256.3

p.P645S

c.1933C>T

5 papers

NM_000256.3

p.P645L

c.1934C>T

61 papers

NM_000256.3

p.E643Splc

c.1928-2A>G

1 paper

NM_000256.3

p.P645del1

c.1933_1935delGGG

1 paper

NM_000256.3

p.I647V

c.1939A>G

1 paper

NM_000256.3

p.E643Splc

c.1928-11G>A

1 paper

NM_000256.3

p.L649insFs

c.1945_1946insT

1 paper

NM_000256.3

p.L649R

c.1946T>G

1 paper

NM_000256.3

p.D650fs

c.1948_1949fs