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.C239*

c.717T>A

Surrounding Variants

1 paper

NM_000256.3

p.C239S

c.716G>C

2 papers

NM_000256.3

p.E240K

c.718G>A

1 paper

NM_000256.3

p.C239Y

c.716G>A

1 paper

NM_000256.3

p.C239R

c.715T>C

1 paper

NM_000256.3

p.C239S

c.715T>A

1 paper

NM_000256.3

p.E240G

c.719A>G

1 paper

NM_000256.3

p.E240D

c.720G>T

1 paper

NM_000256.3

p.E240D

c.720G>C

3 papers

NM_000256.3

p.V241L

c.721G>T

1 paper

NM_000256.3

p.V241_S242insGA

c.721_725ins6

3 papers

NM_000256.3

p.V241L

c.721G>C

1 paper

NM_000256.3

p.R238P

c.713G>C