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.S1231fs

c.3691_3692fs

Surrounding Variants

1 paper

NM_000256.3

p.S1231_K1232insT

c.3691_3695ins3

1 paper

NM_000256.3

p.S1231insFs

c.3691_3692ins4

1 paper

NM_000256.3

p.S1231insFs

c.3692_3693ins4

4 papers

NM_000256.3

p.F1230_S1231delFs

c.3690_3691delTG

1 paper

NM_000256.3

p.F1230L

c.3690C>G

1 paper

NM_000256.3

p.F1230insFs

c.3689dupT

1 paper

NM_000256.3

p.F1230L

c.3690C>A

1 paper

NM_000256.3

p.F1230L

c.3688T>C

2 papers

NM_000256.3

p.F1230fs

c.3688_3689fs

6 papers

NM_000256.3

p.K1232*

c.3694A>T

1 paper

NM_000256.3

p.M1229T

c.3686T>C

2 papers

NM_000256.3

p.M1229fs

c.3685_3686fs