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.V94fs

c.280_281fs

Surrounding Variants

1 paper

NM_000256.3

p.V94G

c.281T>G

1 paper

NM_000256.3

p.V94A

c.281T>C

1 paper

NM_000256.3

p.V94D

c.281T>A

5 papers

NM_000256.3

p.K93K

c.279G>A

1 paper

NM_000256.3

p.V94_I95insFs

c.282_283ins8

1 paper

NM_000256.3

p.V94delFs

c.281delA

1 paper

NM_000256.3

p.K93R

c.278A>G

4 papers

NM_000256.3

p.I95L

c.283A>T

1 paper

NM_000256.3

p.K93E

c.277A>G

4 papers

NM_000256.3

p.I95L

c.283A>C

1 paper

NM_000256.3

p.E96K

c.286G>A

2 papers

NM_000256.3

p.L92F

c.274C>T