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

3 papers

NM_000256.3

p.K814_S815del2

c.2440_2444del6

Surrounding Variants

55 papers

NM_000256.3

p.K814_S815del1

c.2441_2443delTCT

4 papers

NM_000256.3

p.Y816*

c.2448C>G

4 papers

NM_000256.3

p.Y816*

c.2448C>A

14 papers

NM_000256.3

p.R817W

c.2449C>T

7 papers

NM_000256.3

p.R817G

c.2449C>G

1 paper

NM_000256.3

p.R817L

c.2450G>T

1 paper

NM_000256.3

p.K814fs

c.2440_2441fs

1 paper

NM_000256.3

p.R817P

c.2450G>C

7 papers

NM_000256.3

p.R817Q

c.2450G>A

1 paper

NM_000256.3

p.K814R

c.2441A>G

2 papers

NM_000256.3

p.W818G

c.2452T>G

1 paper

NM_000256.3

p.W818R

c.2452T>C