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.N313K

c.939T>G

Surrounding Variants

1 paper

NM_002465.4

p.N313K

c.939T>A

10 papers

NM_002465.4

p.R318*

c.952C>T

7 papers

NM_002465.4

p.P319L

c.956C>T

1 paper

NM_001254718.3

p.S295G

c.883A>G

1 paper

NM_002465.4

p.D303N

c.907G>A

1 paper

NM_002465.4

p.V295V

c.885G>T

1 paper

NM_002465.4

p.G329E

c.986G>A

1 paper

NM_002465.4

p.G352C

c.1054G>T

1 paper

NM_002465.4

p.E354D

c.1062G>C

1 paper

NM_002465.4

p.E354D

c.1062G>T

7 papers

NM_002465.4

p.E359K

c.1075G>A

1 paper

NM_002465.4

p.R363R

c.1089A>G