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

3 papers

NM_000256.3

p.K360N

c.1080G>T

Surrounding Variants

3 papers

NM_000256.3

p.K360N

c.1080G>C

3 papers

NM_000256.3

p.K360*

c.1078A>T

1 paper

NM_000256.3

p.E359del1

c.1075_1076delCTC

1 paper

NM_000256.3

p.S362fs

c.1084_1085fs

1 paper

NM_000256.3

p.S362C

c.1084A>T

2 papers

NM_000256.3

p.S362G

c.1084A>G

2 papers

NM_000256.3

p.E359G

c.1076A>G

5 papers

NM_000256.3

p.S362R

c.1084A>C

1 paper

NM_000256.3

p.S362insFs

c.1084dupA

1 paper

NM_000256.3

p.K361del1

c.1081_1082delCTT

1 paper

NM_000256.3

p.D358E

c.1074T>G

2 papers

NM_000256.3

p.D358E

c.1074T>A