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

2 papers

NM_000256.3

p.I807N

c.2420T>A

Surrounding Variants

1 paper

NM_000256.3

p.Y806_I807insFs

c.2418_2419dupCA

1 paper

NM_000256.3

p.I807fs

c.2419_2420fs

1 paper

NM_000256.3

p.L808L

c.2422C>T

1 paper

NM_000256.3

p.E809K

c.2425G>A

3 papers

NM_000256.3

p.G805S

c.2413G>A

1 paper

NM_000256.3

p.R810C

c.2428C>T

1 paper

NM_000256.3

p.R810fs

c.2428_2429fs

4 papers

NM_000256.3

p.G805Splc

c.2414-2A>G

12 papers

NM_000256.3

p.R810L

c.2429G>T

63 papers

NM_000256.3

p.R810H

c.2429G>A

1 paper

NM_000256.3

p.G805Splc

c.2414-3C>T

3 papers

NM_000256.3

p.R810fs

c.2428_2429fs