Varaico: Literature-Extracted Genetic Variants

BCS1L

230 papers

RefSeq Summary

This gene encodes a homolog of the S. cerevisiae bcs1 protein which is involved in the assembly of complex III of the mitochondrial respiratory chain. The encoded protein does not contain a mitochondr...

Pfam Domains

BCS1_Naa 25–191UCSCBCS1 N terminal

AAAaa 226–355UCSCATPase family associated with various cellular activities (AAA)

AAA_lid_BCS1aa 358–416UCSCMitochondrial chaperone BCS1-like, ATPase lid domain

Gene Aliases

HGNC Name

BCS1 ubiquinol-cytochrome c reductase complex chaperone

HGNC Alias Symbols

Hs.6719; h-BCS; BJS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001079866.2

p.P407delFs

c.1220delC

Surrounding Variants

1 paper

NM_001079866.2

p.P407fs

c.1219_1220fs

1 paper

NM_001079866.2

p.P407fs

c.1219_1220fs

1 paper

NM_001079866.2

p.P407L

c.1220C>T

1 paper

NM_001079866.2

p.M401fs

c.1201_1202fs

1 paper

NM_001079866.2

p.M401fs

c.1201_1202fs

2 papers

NM_001079866.2

p.M401insFs

c.1201_1202insA

2 papers

NM_001079866.2

p.Y399D

c.1195T>G

3 papers

NM_001079866.2

p.L417P

c.1250T>C

1 paper

NM_001079866.2

p.L385F

c.1153C>T

1 paper

NM_001079866.2

p.A381G

c.1142C>G

13 papers

NM_001079866.2

p.F368I

c.1102T>A

2 papers

NM_001079866.2

p.G354ins1

c.1061_1062insCTA