Varaico: Literature-Extracted Genetic Variants

MYBPC1

125 papers

RefSeq Summary

This gene encodes a member of the myosin-binding protein C family. Myosin-binding protein C family members are myosin-associated proteins found in the cross-bridge-bearing zone (C region) of A bands i...

Pfam Domains

I-setaa 58–159UCSCImmunoglobulin I-set domain

THBaa 209–242UCSCTri-helix bundle domain

I-setaa 253–337UCSCImmunoglobulin I-set domain

I-setaa 342–431UCSCImmunoglobulin I-set domain

I-setaa 433–508UCSCImmunoglobulin I-set domain

I-setaa 530–616UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

myosin binding protein C1

HGNC Alias Symbol

ssMyBP-C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002465.4

p.R718C

c.2152C>T

Surrounding Variants

1 paper

NM_002465.4

p.S728delFs

c.2184delC

1 paper

NM_002465.4

p.T703ins1

c.2107_2108insAGG

1 paper

NM_002465.4

p.R683G

c.2047A>G

1 paper

NM_002465.4

p.P745S

c.2233C>T

1 paper

NM_002465.4

p.G776S

c.2326G>A

1 paper

NM_002465.4

p.I637V

c.1909A>G

1 paper

NM_002465.4

p.A635G

c.1904C>G

1 paper

NM_002465.4

p.L626L

c.1876C>T

1 paper

NM_002465.4

p.I613V

c.1837A>G

1 paper

NM_002465.4

p.M592delFs

c.1775delT

1 paper

NM_002465.4

p.I790T

c.2369T>C

2 papers

NM_002465.4

p.V791_A792insFs

c.2373_2374insG