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

3 papers

NM_000256.3

p.P1069H

c.3206C>A

Surrounding Variants

1 paper

NM_000256.3

p.P1069R

c.3206C>G

2 papers

NM_000256.3

p.Q1070fs

c.3208_3209fs

1 paper

NM_000256.3

p.Q1070delFs

c.3208delG

1 paper

NM_000256.3

p.P1068_P1069del2

c.3202_3206del6

1 paper

NM_000256.3

p.Q1070H

c.3210G>T

1 paper

NM_000256.3

p.Q1070H

c.3210G>C

1 paper

NM_000256.3

p.L1072R

c.3215T>G

5 papers

NM_000256.3

p.P1066R

c.3197C>G

10 papers

NM_000256.3

p.K1065fs

c.3193_3194fs

2 papers

NM_000256.3

p.R1073fs

c.3217_3218fs

5 papers

NM_000256.3

p.R1073W

c.3217C>T

6 papers

NM_000256.3

p.R1073insFs

c.3217dupC