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.T65S

c.193A>T

Surrounding Variants

2 papers

NM_000256.3

p.T65_L66insG

c.193_197ins3

6 papers

NM_000256.3

p.T65M

c.194C>T

1 paper

NM_000256.3

p.T65T

c.195G>T

1 paper

NM_000256.3

p.H64R

c.191A>G

1 paper

NM_000256.3

p.L66L

c.196C>T

1 paper

NM_000256.3

p.H64Y

c.190C>T

2 papers

NM_000256.3

p.L66P

c.197T>C

8 papers

NM_000256.3

p.R63Q

c.188G>A

1 paper

NM_000256.3

p.T65_L66delFs

c.194_197del4

16 papers

NM_000256.3

p.T59_R63delFs

c.177_187del11

1 paper

NM_000256.3

p.R63fs

c.187_188fs

3 papers

NM_000256.3

p.R63W

c.187C>T