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

13 papers

NM_000256.3

p.L1238P

c.3713T>C

Surrounding Variants

1 paper

NM_000256.3

p.L1238fs

c.3712_3713fs

5 papers

NM_000256.3

p.L1238delFs

c.3712_3713delAG

4 papers

NM_000256.3

p.L1238fs

c.3712_3713fs

2 papers

NM_000256.3

p.L1238delFs

c.3713_3714delCA

1 paper

NM_000256.3

p.E1239G

c.3716A>G

2 papers

NM_000256.3

p.T1237P

c.3709A>C

4 papers

NM_000256.3

p.V1235_L1236del2

c.3703_3707del6

2 papers

NM_000256.3

p.L1236fs

c.3706_3707fs

1 paper

NM_000256.3

p.E1239del1

c.3715_3717delCTC

1 paper

NM_000256.3

p.I1240S

c.3719T>G

2 papers

NM_000256.3

p.I1240T

c.3719T>C

2 papers

NM_000256.3

p.I1240N

c.3719T>A