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.G347S

c.1039G>A

Surrounding Variants

1 paper

NM_000256.3

p.G347D

c.1040G>A

1 paper

NM_000256.3

p.R346R

c.1038C>T

1 paper

NM_000256.3

p.R346fs

c.1036_1037fs

1 paper

NM_000256.3

p.R346P

c.1037G>C

11 papers

NM_000256.3

p.R346H

c.1037G>A

2 papers

NM_000256.3

p.M348fs

c.1042_1043fs

1 paper

NM_000256.3

p.R346C

c.1036C>T

1 paper

NM_000256.3

p.R346G

c.1036C>G

1 paper

NM_000256.3

p.L345_R346delins

c.1035_1036delinsCA

1 paper

NM_000256.3

p.M348insFs

c.1042_1043ins5

5 papers

NM_000256.3

p.R346_M348insFs

c.1038_1042dup5

1 paper

NM_000256.3

p.M348T

c.1043T>C