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

3 papers

NM_000256.3

p.T936M

c.2807C>T

Surrounding Variants

2 papers

NM_000256.3

p.T936insFs

c.2807dupC

1 paper

NM_000256.3

p.T936delFs

c.2806_2807delGT

2 papers

NM_000256.3

p.A938fs

c.2812_2813fs

1 paper

NM_000256.3

p.L934P

c.2801T>C

1 paper

NM_000256.3

p.A938V

c.2813C>T

1 paper

NM_000256.3

p.A938insFs

c.2812_2813insG

1 paper

NM_000256.3

p.L934L

c.2800C>T

4 papers

NM_000256.3

p.R939W

c.2815C>T

1 paper

NM_000256.3

p.K932R

c.2795A>G

2 papers

NM_000256.3

p.K932fs

c.2794_2795fs

3 papers

NM_000256.3

p.V931insFs

c.2792dupT

2 papers

NM_000256.3

p.V931fs

c.2791_2792fs