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

2 papers

NM_000256.3

p.G341R

c.1021G>C

Surrounding Variants

2 papers

NM_000256.3

p.G341C

c.1021G>T

11 papers

NM_000256.3

p.G341S

c.1021G>A

1 paper

NM_000256.3

p.G341D

c.1022G>A

10 papers

NM_000256.3

p.Y340*

c.1020C>G

8 papers

NM_000256.3

p.Y340*

c.1020C>A

1 paper

NM_000256.3

p.V342I

c.1024G>A

7 papers

NM_000256.3

p.V342D

c.1025T>A

1 paper

NM_000256.3

p.Q339Q

c.1017G>A

1 paper

NM_000256.3

p.T343fs

c.1027_1028fs

4 papers

NM_000256.3

p.Q339*

c.1015C>T

2 papers

NM_000256.3

p.Y340_V342del3

c.1018_1025del9

2 papers

NM_000256.3

p.F338F

c.1014C>T