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.T1042A

c.3124A>G

Surrounding Variants

2 papers

NM_000256.3

p.T1042fs

c.3124_3125fs

1 paper

NM_000256.3

p.T1042_Y1043ins5

c.3124_3128ins15

3 papers

NM_000256.3

p.G1041fs

c.3121_3122fs

4 papers

NM_000256.3

p.T1042insFs

c.3124_3125insAA

1 paper

NM_000256.3

p.T1042fs

c.3124_3125fs

1 paper

NM_000256.3

p.G1041S

c.3121G>A

2 papers

NM_000256.3

p.Y1043fs

c.3127_3128fs

2 papers

NM_000256.3

p.Y1043insFs

c.3127dupT

4 papers

NM_000256.3

p.Y1043*

c.3129C>G

4 papers

NM_000256.3

p.Y1043*

c.3129C>A

3 papers

NM_000256.3

p.S1040A

c.3118T>G

5 papers

NM_000256.3

p.Q1044*

c.3130C>T