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.R351_L352del2

c.1051_1055del6

Surrounding Variants

1 paper

NM_000256.3

p.L352_K353insFs

c.1055_1058dup4

1 paper

NM_000256.3

p.K353delFs

c.1058delT

2 papers

NM_000256.3

p.K353fs

c.1057_1058fs

1 paper

NM_000256.3

p.L352L

c.1056C>A

15 papers

NM_000256.3

p.L352P

c.1055T>C

2 papers

NM_000256.3

p.G354G

c.1062C>T

3 papers

NM_000256.3

p.R351_L352delins

c.1053_1054delinsTT

1 paper

NM_000256.3

p.R351fs

c.1051_1052fs

1 paper

NM_000256.3

p.K353_M355ins1

c.1058_1063dup6

1 paper

NM_000256.3

p.R356G

c.1066A>G

4 papers

NM_000256.3

p.R357C

c.1069C>T

1 paper

NM_000256.3

p.L349R

c.1046T>G