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

2 papers

NM_001079866.2

p.R33Q

c.98G>A

Surrounding Variants

1 paper

NM_001079866.2

p.R33W

c.97C>T

12 papers

NM_001079866.2

p.G35R

c.103G>C

1 paper

NM_001079866.2

p.L31delFs

c.93delG

1 paper

NM_001079866.2

p.G24D

c.71G>A

1 paper

NM_001079866.2

p.L22insFs

c.64_65ins4

1 paper

NM_001079866.2

p.L22fs

c.64_65fs

22 papers

NM_001079866.2

p.R45C

c.133C>T

5 papers

NM_001079866.2

p.R45H

c.134G>A

1 paper

NM_001079866.2

p.G19R

c.55G>A

1 paper

NM_001079866.2

p.G19R

c.55G>C

4 papers

NM_001079866.2

p.M48V

c.142A>G

11 papers

NM_001079866.2

p.T50A

c.148A>G