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

18 papers

NM_002465.4

p.Y856H

c.2566T>C

Surrounding Variants

1 paper

NM_002465.4

p.K829fs

c.2485_2486fs

2 papers

NM_002465.4

p.K829_Y831delFs

c.2486_2492del7

1 paper

NM_002465.4

p.R816L

c.2447G>T

1 paper

NM_002465.4

p.A792S

c.2374G>T

2 papers

NM_002465.4

p.V791_A792insFs

c.2373_2374insG

1 paper

NM_002465.4

p.I790T

c.2369T>C

1 paper

NM_002465.4

p.D888G

c.2663A>G

1 paper

NM_002465.4

p.Q919P

c.2756A>C

2 papers

NM_002465.4

p.Q943*

c.2827C>T

1 paper

NM_002465.4

p.I947T

c.2840T>C

1 paper

NM_002465.4

p.A956T

c.2866G>A

1 paper

NM_002465.4

p.L957F

c.2869C>T