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

39 papers

NM_000256.3

p.D1064Splc

c.3190+5G>A

Surrounding Variants

2 papers

NM_000256.3

p.D1064Splc

c.3190+5G>C

1 paper

NM_000256.3

p.D1064Splc

c.3190+4C>T

13 papers

NM_000256.3

p.D1064Splc

c.3190+2T>G

1 paper

NM_000256.3

p.D1064Splc

c.3190+2T>C

17 papers

NM_000256.3

p.D1064Splc

c.3190+1G>A

3 papers

NM_000256.3

p.V1063del1

c.3187_3188delAAC

1 paper

NM_000256.3

p.D1064Y

c.3190G>T

1 paper

NM_000256.3

p.D1064N

c.3190G>A

3 papers

NM_000256.3

p.V1063fs

c.3187_3188fs

1 paper

NM_000256.3

p.V1063A

c.3188T>C

1 paper

NM_000256.3

p.V1062delFs

c.3184delC

55 papers

NM_000256.3

p.Q1061*

c.3181C>T