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

1–12 of 161 variants

75 papers

NM_001079866.2

p.S78G

c.232A>G

43 papers

NM_001079866.2

p.R56*

c.166C>T

25 papers

NM_001079866.2

p.R184C

c.550C>T

22 papers

NM_001079866.2

p.R45C

c.133C>T

22 papers

NM_001079866.2

p.P99L

c.296C>T

18 papers

NM_001079866.2

p.G129R

c.385G>A

16 papers

NM_001079866.2

p.R155P

c.464G>C

16 papers

NM_001079866.2

p.R183H

c.548G>A

16 papers

NM_001079866.2

p.V353M

c.1057G>A

15 papers

NM_001079866.2

p.G129R

c.385G>C

14 papers

NM_001079866.2

p.R183C

c.547C>T

14 papers

NM_001079866.2

p.S277N

c.830G>A