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

2 papers

NM_000256.3

p.M1229fs

c.3685_3686fs

Surrounding Variants

2 papers

NM_000256.3

p.M1229V

c.3685A>G

1 paper

NM_000256.3

p.R1228_M1229insFs

c.3684_3685insC

2 papers

NM_000256.3

p.R1228insFs

c.3683_3684dupGC

1 paper

NM_000256.3

p.R1228_M1229insFs

c.3684_3685ins7

1 paper

NM_000256.3

p.M1229T

c.3686T>C

1 paper

NM_000256.3

p.R1228_M1229insFs

c.3684_3685insGC

1 paper

NM_000256.3

p.R1228P

c.3683G>C

1 paper

NM_000256.3

p.F1230L

c.3688T>C

13 papers

NM_000256.3

p.R1228C

c.3682C>T

2 papers

NM_000256.3

p.F1230fs

c.3688_3689fs

2 papers

NM_000256.3

p.D1224_F1227del4

c.3670_3680del12

1 paper

NM_000256.3

p.F1230L

c.3690C>G