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

2 papers

NM_000256.3

p.S311P

c.931T>C

Surrounding Variants

5 papers

NM_000256.3

p.S311T

c.931T>A

1 paper

NM_000256.3

p.D310delFs

c.930delG

7 papers

NM_000256.3

p.S311L

c.932C>T

1 paper

NM_000256.3

p.S311W

c.932C>G

13 papers

NM_000256.3

p.S311*

c.932C>A

1 paper

NM_000256.3

p.S311S

c.933G>C

1 paper

NM_000256.3

p.K312R

c.935A>G

1 paper

NM_000256.3

p.K312N

c.936G>T

3 papers

NM_000256.3

p.R309Splc

c.927-1G>C

1 paper

NM_000256.3

p.K312N

c.936G>C

57 papers

NM_000256.3

p.R309Splc

c.927-2A>G

1 paper

NM_000256.3

p.R309Splc

c.927-2A>C