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.E516*

c.1546G>T

Surrounding Variants

1 paper

NM_000256.3

p.E516Q

c.1546G>C

10 papers

NM_000256.3

p.N515del1

c.1543_1545delGTT

8 papers

NM_000256.3

p.N515S

c.1544A>G

1 paper

NM_000256.3

p.N515D

c.1543A>G

3 papers

NM_000256.3

p.I514V

c.1540A>G

1 paper

NM_000256.3

p.M518T

c.1553T>C

1 paper

NM_000256.3

p.L519V

c.1555C>G

1 paper

NM_000256.3

p.L512P

c.1535T>C

2 papers

NM_000256.3

p.L512Q

c.1535T>A

6 papers

NM_000256.3

p.E520*

c.1558G>T

1 paper

NM_000256.3

p.L512L

c.1534C>T

1 paper

NM_000256.3

p.A517_L519del3

c.1549_1556del9