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.Q276R

c.827A>G

Surrounding Variants

1 paper

NM_001079866.2

p.Q276*

c.826C>T

1 paper

NM_001079866.2

p.S277R

c.829A>C

1 paper

NM_001079866.2

p.Q275R

c.824A>G

14 papers

NM_001079866.2

p.S277N

c.830G>A

1 paper

NM_001079866.2

p.S277R

c.831C>A

1 paper

NM_001079866.2

p.Q275E

c.823C>G

1 paper

NM_001079866.2

p.S277R

c.831C>G

1 paper

NM_001079866.2

p.P274L

c.821C>T

1 paper

NM_001079866.2

p.P274fs

c.820_821fs

4 papers

NM_001079866.2

p.P274fs

c.820_821fs

6 papers

NM_001079866.2

p.P274delFs

c.821delC

6 papers

NM_001079866.2

p.L280F

c.838C>T