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

15 papers

NM_001079866.2

p.G129R

c.385G>C

Surrounding Variants

18 papers

NM_001079866.2

p.G129R

c.385G>A

2 papers

NM_001079866.2

p.E133fs

c.397_398fs

7 papers

NM_001079866.2

p.E133delFs

c.399delA

2 papers

NM_001079866.2

p.E133fs

c.397_398fs

2 papers

NM_001079866.2

p.T138M

c.413C>T

2 papers

NM_001079866.2

p.R119*

c.355C>T

1 paper

NM_001079866.2

p.T142A

c.424A>G

1 paper

NM_001079866.2

p.V115I

c.343G>A

10 papers

NM_001079866.2

p.R114W

c.340C>T

2 papers

NM_001079866.2

p.R144*

c.430C>T

11 papers

NM_001079866.2

p.R144Q

c.431G>A

1 paper

NM_001079866.2

p.R144_K145insFs

c.432_433insTA