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.G922R

c.2764G>C

Surrounding Variants

1 paper

NM_000256.3

p.G922R

c.2764G>A

2 papers

NM_000256.3

p.G922E

c.2765G>A

4 papers

NM_000256.3

p.Q921L

c.2762A>T

3 papers

NM_000256.3

p.Q921*

c.2761C>T

11 papers

NM_000256.3

p.Q921E

c.2761C>G

4 papers

NM_000256.3

p.T924I

c.2771C>T

1 paper

NM_000256.3

p.V917_A918del2

c.2749_2753del6

1 paper

NM_000256.3

p.A919S

c.2755G>T

2 papers

NM_000256.3

p.E925delFs

c.2774_2775delCT

1 paper

NM_000256.3

p.V917delFs

c.2749delC

1 paper

NM_000256.3

p.V917fs

c.2749_2750fs

7 papers

NM_000256.3

p.T927fs

c.2779_2780fs