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.K504R

c.1511A>G

Surrounding Variants

2 papers

NM_000256.3

p.R502_F503delFs

c.1505_1509del5

5 papers

NM_000256.3

p.F503L

c.1509C>G

4 papers

NM_000256.3

p.F503L

c.1509C>A

4 papers

NM_000256.3

p.K505*

c.1513A>T

4 papers

NM_000256.3

p.F503L

c.1507T>C

1 paper

NM_000256.3

p.R502fs

c.1504_1505fs

22 papers

NM_000256.3

p.K505del1

c.1513_1515delCTT

1 paper

NM_000256.3

p.D506fs

c.1516_1517fs

5 papers

NM_000256.3

p.R502L

c.1505G>T

84 papers

NM_000256.3

p.R502Q

c.1505G>A

1 paper

NM_000256.3

p.D506G

c.1517A>G

3 papers

NM_000256.3

p.D506delFs

c.1516delC