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

5 papers

NM_000256.3

p.P1066R

c.3197C>G

Surrounding Variants

10 papers

NM_000256.3

p.K1065fs

c.3193_3194fs

16 papers

NM_000256.3

p.K1065fs

c.3193_3194fs

29 papers

NM_000256.3

p.D1064insFs

c.3192dupC

1 paper

NM_000256.3

p.D1064insFs

c.3191_3192insT

2 papers

NM_000256.3

p.D1064N

c.3190G>A

1 paper

NM_000256.3

p.D1064Splc

c.3191-2A>C

1 paper

NM_000256.3

p.P1069R

c.3206C>G

1 paper

NM_000256.3

p.D1064Splc

c.3191-3C>G

3 papers

NM_000256.3

p.P1069H

c.3206C>A

2 papers

NM_000256.3

p.Q1070fs

c.3208_3209fs

1 paper

NM_000256.3

p.Q1070delFs

c.3208delG

1 paper

NM_000256.3

p.P1068_P1069del2

c.3202_3206del6