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

12 papers

NM_000256.3

p.R17Q

c.50G>A

Surrounding Variants

1 paper

NM_000256.3

p.R17L

c.50G>T

1 paper

NM_000256.3

p.R17insFs

c.49dupC

1 paper

NM_000256.3

p.P16_R17del1

c.47_49delGTG

1 paper

NM_000256.3

p.R17fs

c.49_50fs

3 papers

NM_000256.3

p.R17W

c.49C>T

2 papers

NM_000256.3

p.R17insFs

c.51dupG

1 paper

NM_000256.3

p.P16P

c.48A>T

1 paper

NM_000256.3

p.P16delFs

c.47delG

1 paper

NM_000256.3

p.S18fs

c.52_53fs

1 paper

NM_000256.3

p.P16S

c.46C>T

2 papers

NM_000256.3

p.K14del1

c.40_42delCTT

1 paper

NM_000256.3

p.S18fs

c.52_53fs