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.C1264R

c.3790T>C

Surrounding Variants

1 paper

NM_000256.3

p.C1264G

c.3790T>G

3 papers

NM_000256.3

p.C1264F

c.3791G>T

5 papers

NM_000256.3

p.C1264Y

c.3791G>A

4 papers

NM_000256.3

p.C1264*

c.3792T>A

7 papers

NM_000256.3

p.R1263W

c.3787C>T

4 papers

NM_000256.3

p.E1265V

c.3794A>T

5 papers

NM_000256.3

p.C1264_E1265delFs

c.3792_3793delCA

1 paper

NM_000256.3

p.E1261_A1262delFs

c.3781_3785del5

1 paper

NM_000256.3

p.A1262V

c.3785C>T

2 papers

NM_000256.3

p.C1266_R1267ins4

c.3796_3800ins12

4 papers

NM_000256.3

p.C1266R

c.3796T>C

1 paper

NM_000256.3

p.A1262P

c.3784G>C