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

9 papers

NM_000256.3

p.R654C

c.1960C>T

Surrounding Variants

15 papers

NM_000256.3

p.R654H

c.1961G>A

1 paper

NM_000256.3

p.R654del1

c.1960_1961delGCG

1 paper

NM_000256.3

p.G653_R654del0

c.1957_1962del6

2 papers

NM_000256.3

p.I655T

c.1964T>C

4 papers

NM_000256.3

p.P652R

c.1955C>G

1 paper

NM_000256.3

p.I655M

c.1965A>G

1 paper

NM_000256.3

p.P656L

c.1967C>T

1 paper

NM_000256.3

p.D650_C651delFs

c.1948_1952del5

1 paper

NM_000256.3

p.C651F

c.1952G>T

1 paper

NM_000256.3

p.C651Y

c.1952G>A

1 paper

NM_000256.3

p.D650delFs

c.1950delG

1 paper

NM_000256.3

p.G653_D657Fs

c.1957_1969delinsATGCTFs