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.K685N

c.2055G>C

Surrounding Variants

1 paper

NM_000256.3

p.K685N

c.2055G>T

5 papers

NM_000256.3

p.A686P

c.2056G>C

2 papers

NM_000256.3

p.K685fs

c.2053_2054fs

1 paper

NM_000256.3

p.A686A

c.2058T>A

1 paper

NM_000256.3

p.I687insFs

c.2059_2060ins11

1 paper

NM_000256.3

p.Q684*

c.2050C>T

1 paper

NM_000256.3

p.W683C

c.2049G>T

1 paper

NM_000256.3

p.W683C

c.2049G>C

7 papers

NM_000256.3

p.W683*

c.2049G>A

1 paper

NM_000256.3

p.W683L

c.2048G>T

7 papers

NM_000256.3

p.W683*

c.2048G>A

1 paper

NM_000256.3

p.W683R

c.2047T>A