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.K488R

c.1463A>G

Surrounding Variants

1 paper

NM_000256.3

p.D489V

c.1466A>T

1 paper

NM_000256.3

p.D489D

c.1467C>T

1 paper

NM_000256.3

p.D489E

c.1467C>G

1 paper

NM_000256.3

p.D489E

c.1467C>A

44 papers

NM_000256.3

p.G490R

c.1468G>C

49 papers

NM_000256.3

p.G490R

c.1468G>A

11 papers

NM_000256.3

p.W486*

c.1458G>A

1 paper

NM_000256.3

p.L487_D489del3

c.1459_1466del9

4 papers

NM_000256.3

p.G490V

c.1469G>T

10 papers

NM_000256.3

p.W486Splc

c.1458-1G>C

22 papers

NM_000256.3

p.W486*

c.1457G>A

7 papers

NM_000256.3

p.W486G

c.1456T>G