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

9 papers

NM_002465.4

p.L263R

c.788T>G

Surrounding Variants

1 paper

NM_002465.4

p.M262I

c.786G>C

8 papers

NM_002465.4

p.L259P

c.776T>C

1 paper

NM_002465.4

p.D258N

c.772G>A

1 paper

NM_002465.4

p.G255_K267delFs

c.765_799del35

1 paper

NM_002465.4

p.E273insFs

c.817dupG

1 paper

NM_002465.4

p.Y254H

c.760T>C

1 paper

NM_002465.4

p.E273V

c.818A>T

1 paper

NM_002465.4

p.S276N

c.827G>A

1 paper

NM_002465.4

p.K249K

c.747G>A

1 paper

NM_002465.4

p.E248D

c.744G>C

14 papers

NM_002465.4

p.E248K

c.742G>A

8 papers

NM_002465.4

p.Y247H

c.739T>C