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.R820G

c.2458C>G

Surrounding Variants

67 papers

NM_000256.3

p.R820W

c.2458C>T

2 papers

NM_000256.3

p.R820P

c.2459G>C

82 papers

NM_000256.3

p.R820Q

c.2459G>A

2 papers

NM_000256.3

p.M819T

c.2456T>C

1 paper

NM_000256.3

p.M819K

c.2456T>A

2 papers

NM_000256.3

p.M819_R820delFs

c.2455_2459del5

1 paper

NM_000256.3

p.W818_R820del0

c.2452_2460del9

1 paper

NM_000256.3

p.W818fs

c.2452_2453fs

12 papers

NM_000256.3

p.W818*

c.2454G>A

12 papers

NM_000256.3

p.W818*

c.2453G>A

2 papers

NM_000256.3

p.W818G

c.2452T>G

1 paper

NM_000256.3

p.W818R

c.2452T>C