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

4 papers

NM_000256.3

p.C1266R

c.3796T>C

Surrounding Variants

2 papers

NM_000256.3

p.C1266_R1267ins4

c.3796_3800ins12

1 paper

NM_000256.3

p.C1266fs

c.3796_3797fs

9 papers

NM_000256.3

p.C1266Y

c.3797G>A

3 papers

NM_000256.3

p.C1266W

c.3798C>G

1 paper

NM_000256.3

p.C1266*

c.3798C>A

1 paper

NM_000256.3

p.C1266delFs

c.3797delC

4 papers

NM_000256.3

p.E1265V

c.3794A>T

5 papers

NM_000256.3

p.C1264_E1265delFs

c.3792_3793delCA

2 papers

NM_000256.3

p.R1267C

c.3799C>T

1 paper

NM_000256.3

p.R1267fs

c.3799_3800fs

4 papers

NM_000256.3

p.C1264*

c.3792T>A

1 paper

NM_000256.3

p.R1267P

c.3800G>C