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

1 paper

NM_001079866.2

p.G173D

c.518G>A

Surrounding Variants

1 paper

NM_001079866.2

p.V167M

c.499G>A

1 paper

NM_001079866.2

p.K165*

c.493A>T

14 papers

NM_001079866.2

p.R183C

c.547C>T

16 papers

NM_001079866.2

p.R183H

c.548G>A

2 papers

NM_001079866.2

p.E163K

c.487G>A

25 papers

NM_001079866.2

p.R184C

c.550C>T

2 papers

NM_001079866.2

p.E163del1

c.487_488delGAA

2 papers

NM_001079866.2

p.E162_E163del1

c.486_488delGGA

5 papers

NM_001079866.2

p.R186*

c.556C>T

1 paper

NM_001079866.2

p.Q160*

c.478C>T

3 papers

NM_001079866.2

p.E156V

c.467A>T

1 paper

NM_001079866.2

p.V191insFs

c.572_573ins4