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.Y333_R335del0

c.999_1004del6

Surrounding Variants

1 paper

NM_000256.3

p.I336V

c.1006A>G

1 paper

NM_000256.3

p.I336N

c.1007T>A

1 paper

NM_000256.3

p.A337P

c.1009G>C

6 papers

NM_000256.3

p.R335C

c.1003C>T

2 papers

NM_000256.3

p.R335S

c.1003C>A

1 paper

NM_000256.3

p.E334D

c.1002G>T

1 paper

NM_000256.3

p.E334D

c.1002G>C

1 paper

NM_000256.3

p.E334G

c.1001A>G

11 papers

NM_000256.3

p.E334*

c.1000G>T

1 paper

NM_000256.3

p.E334Q

c.1000G>C

76 papers

NM_000256.3

p.E334K

c.1000G>A

6 papers

NM_000256.3

p.Y333*

c.999C>G