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.R945fs

c.2833_2834fs

Surrounding Variants

2 papers

NM_000256.3

p.R945W

c.2833C>T

3 papers

NM_000256.3

p.R945L

c.2834G>T

5 papers

NM_000256.3

p.R945Q

c.2834G>A

13 papers

NM_000256.3

p.R945fs

c.2833_2834fs

19 papers

NM_000256.3

p.R945delFs

c.2833_2834delCG

5 papers

NM_000256.3

p.R943Q

c.2828G>A

139 papers

NM_000256.3

p.R943*

c.2827C>T

4 papers

NM_000256.3

p.H947N

c.2839C>A

1 paper

NM_000256.3

p.H947Q

c.2841C>A

2 papers

NM_000256.3

p.N948fs

c.2842_2843fs

7 papers

NM_000256.3

p.N948T

c.2843A>C

3 papers

NM_000256.3

p.N948delFs

c.2842_2843delTT