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

37 papers

NM_000256.3

p.R495W

c.1483C>T

Surrounding Variants

37 papers

NM_000256.3

p.R495G

c.1483C>G

1 paper

NM_000256.3

p.R495L

c.1484G>T

109 papers

NM_000256.3

p.R495Q

c.1484G>A

1 paper

NM_000256.3

p.T494I

c.1481C>T

1 paper

NM_000256.3

p.E497D

c.1491G>T

1 paper

NM_000256.3

p.E497D

c.1491G>C

1 paper

NM_000256.3

p.E497del1

c.1489_1491delCTC

1 paper

NM_000256.3

p.V491insFs

c.1471dupG

1 paper

NM_000256.3

p.V491delFs

c.1471delC

1 paper

NM_000256.3

p.F499L

c.1495T>C

13 papers

NM_000256.3

p.V491M

c.1471G>A

1 paper

NM_000256.3

p.V491fs

c.1471_1472fs