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

45 papers

NM_000256.3

p.Q969*

c.2905C>T

Surrounding Variants

1 paper

NM_000256.3

p.Q969Splc

c.2906-1G>C

3 papers

NM_000256.3

p.Q969Splc

c.2906-2A>G

1 paper

NM_000256.3

p.Q969Splc

c.2906-3C>G

13 papers

NM_000256.3

p.R970W

c.2908C>T

9 papers

NM_000256.3

p.R970Q

c.2909G>A

1 paper

NM_000256.3

p.P971_R972insT

c.2911_2915ins3

1 paper

NM_000256.3

p.P971_R972insCT

c.2911_2915ins6

1 paper

NM_000256.3

p.P971fs

c.2911_2912fs

1 paper

NM_000256.3

p.P971delFs

c.2912delG

5 papers

NM_000256.3

p.R972W

c.2914C>T

5 papers

NM_000256.3

p.R972Q

c.2915G>A

1 paper

NM_000256.3

p.Q969Splc

c.2906-12C>T