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.A199T

c.595G>A

Surrounding Variants

1 paper

NM_002465.4

p.D195A

c.584A>C

1 paper

NM_002465.4

p.L219P

c.656T>C

3 papers

NM_002465.4

p.E186K

c.556G>A

1 paper

NM_002465.4

p.H185Y

c.553C>T

1 paper

NM_002465.4

p.V184M

c.550G>A

1 paper

NM_002465.4

p.D181A

c.542A>C

1 paper

NM_002465.4

p.F175delFs

c.525delT

1 paper

NM_002465.4

p.D173N

c.517G>A

1 paper

NM_001254718.3

p.D134Y

c.400G>T

1 paper

NM_002465.4

p.G132V

c.395G>T

1 paper

NM_002465.4

p.L127_A128ins1

c.381_382insATC

1 paper

NM_002465.4

p.L127delFs

c.379_380delCT