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.R90H

c.269G>A

Surrounding Variants

5 papers

NM_001079866.2

p.R90C

c.268C>T

1 paper

NM_001079866.2

p.S82*

c.245C>A

3 papers

NM_001079866.2

p.S82L

c.245C>T

22 papers

NM_001079866.2

p.P99L

c.296C>T

1 paper

NM_001079866.2

p.G102R

c.304G>A

1 paper

NM_001079866.2

p.S78fs

c.232_233fs

75 papers

NM_001079866.2

p.S78G

c.232A>G

5 papers

NM_001079866.2

p.G102G

c.306A>T

1 paper

NM_001079866.2

p.S78fs

c.232_233fs

2 papers

NM_001079866.2

p.L77_S78delFs

c.231_232delCA

13 papers

NM_001079866.2

p.R73C

c.217C>T

3 papers

NM_001079866.2

p.W107Splc

c.320+1G>T