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

1 paper

NM_000256.3

p.E542Splc

c.1624+4A>C

Surrounding Variants

45 papers

NM_000256.3

p.E542Splc

c.1624+4A>T

2 papers

NM_000256.3

p.E542Splc

c.1624+5G>T

1 paper

NM_000256.3

p.E542Splc

c.1624+3G>C

2 papers

NM_000256.3

p.E542Splc

c.1624+2T>C

1 paper

NM_000256.3

p.E542Splc

c.1624+1G>C

14 papers

NM_000256.3

p.E542Splc

c.1624+1G>A

2 papers

NM_000256.3

p.A534_Q541del8

c.1600_1622del24

71 papers

NM_000256.3

p.E542Q

c.1624G>C

1 paper

NM_000256.3

p.E542K

c.1624G>A

1 paper

NM_000256.3

p.Q541*

c.1621C>T

1 paper

NM_000256.3

p.E542Splc

c.1624+11C>G

1 paper

NM_000256.3

p.V540E

c.1619T>A