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.G1222*

c.3664G>T

Surrounding Variants

2 papers

NM_000256.3

p.L1221fs

c.3661_3662fs

4 papers

NM_000256.3

p.L1221delFs

c.3662delA

2 papers

NM_000256.3

p.D1220_L1221delFs

c.3659_3662del4

1 paper

NM_000256.3

p.D1220_L1221Fs

c.3659_3662delinsTTCAAGAATGGCFs

2 papers

NM_000256.3

p.E1223Q

c.3667G>C

1 paper

NM_000256.3

p.E1223K

c.3667G>A

5 papers

NM_000256.3

p.L1221fs

c.3661_3662fs

1 paper

NM_000256.3

p.L1221V

c.3661C>G

2 papers

NM_000256.3

p.D1220fs

c.3658_3659fs

1 paper

NM_000256.3

p.E1223D

c.3669A>T

1 paper

NM_000256.3

p.E1223D

c.3669A>C

1 paper

NM_000256.3

p.D1220Y

c.3658G>T