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.L1030_A1034delFs

c.3089_3101del13

Surrounding Variants

1 paper

NM_000256.3

p.A1034A

c.3102C>T

2 papers

NM_000256.3

p.A1035T

c.3103G>A

2 papers

NM_000256.3

p.A1034delFs

c.3100delC

2 papers

NM_000256.3

p.A1034fs

c.3100_3101fs

10 papers

NM_000256.3

p.R1033Q

c.3098G>A

9 papers

NM_000256.3

p.R1036C

c.3106C>T

6 papers

NM_000256.3

p.R1036H

c.3107G>A

8 papers

NM_000256.3

p.R1033W

c.3097C>T

2 papers

NM_000256.3

p.R1037C

c.3109C>T

1 paper

NM_000256.3

p.F1031L

c.3093C>G

1 paper

NM_000256.3

p.F1031L

c.3093C>A

2 papers

NM_000256.3

p.V1038insFs

c.3112_3113insC