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.E1085fs

c.3253_3254fs

Surrounding Variants

6 papers

NM_000256.3

p.E1085*

c.3253G>T

3 papers

NM_000256.3

p.E1085Q

c.3253G>C

1 paper

NM_000256.3

p.V1082_L1084del3

c.3244_3251del9

1 paper

NM_000256.3

p.L1084P

c.3251T>C

1 paper

NM_000256.3

p.E1085fs

c.3253_3254fs

1 paper

NM_000256.3

p.E1085delFs

c.3254delT

3 papers

NM_000256.3

p.W1086R

c.3256T>C

3 papers

NM_000256.3

p.W1086R

c.3256T>A

7 papers

NM_000256.3

p.W1086*

c.3257G>A

5 papers

NM_000256.3

p.W1086*

c.3258G>A

2 papers

NM_000256.3

p.K1087*

c.3259A>T

1 paper

NM_000256.3

p.W1086insFs

c.3258dupG