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

51 papers

NM_000256.3

p.Q969Splc

c.2905+1G>A

Surrounding Variants

3 papers

NM_000256.3

p.Q969Splc

c.2905+1G>C

5 papers

NM_000256.3

p.Q969Splc

c.2905+2T>G

3 papers

NM_000256.3

p.Q969Splc

c.2905+2T>C

35 papers

NM_000256.3

p.Q969*

c.2905C>T

1 paper

NM_000256.3

p.Q969Splc

c.2905+3G>C

1 paper

NM_000256.3

p.T963_L968delFs

c.2889_2902del14

8 papers

NM_000256.3

p.Q969Splc

c.2905+5G>T

3 papers

NM_000256.3

p.Q969Splc

c.2905+5G>A

1 paper

NM_000256.3

p.E966E

c.2898G>A

1 paper

NM_000256.3

p.Q969Splc

c.2905+10C>T

1 paper

NM_000256.3

p.E966*

c.2896G>T

1 paper

NM_000256.3

p.E966K

c.2896G>A