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.P41delFs

c.122delC

Surrounding Variants

1 paper

NM_002465.4

p.V39A

c.116T>C

1 paper

NM_002465.4

p.E38K

c.112G>A

1 paper

NM_002465.4

p.S43T

c.128G>C

1 paper

NM_002465.4

p.A44T

c.130G>A

1 paper

NM_002465.4

p.L45S

c.134T>C

1 paper

NM_002465.4

p.L49F

c.147G>C

1 paper

NM_002465.4

p.L49F

c.147G>T

1 paper

NM_002465.4

p.A53D

c.158C>A

1 paper

NM_002465.4

p.R56K

c.167G>A

1 paper

NM_002465.4

p.P68H

c.203C>A

1 paper

NM_001254719.3

p.Q47Q

c.141A>G

1 paper

NM_002465.4

p.G91R

c.271G>A