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.W62S

c.185G>C

Surrounding Variants

1 paper

NM_001079866.2

p.L64_S65ins4

c.190_194ins12

1 paper

NM_001079866.2

p.L64F

c.190C>T

1 paper

NM_001079866.2

p.Y60C

c.179A>G

1 paper

NM_001079866.2

p.S65C

c.193A>T

1 paper

NM_001079866.2

p.S65N

c.194G>A

1 paper

NM_001079866.2

p.W66*

c.197G>A

1 paper

NM_001079866.2

p.W66*

c.198G>A

1 paper

NM_001079866.2

p.L67P

c.200T>C

2 papers

NM_001079866.2

p.T68P

c.202A>C

1 paper

NM_001079866.2

p.D57delFs

c.169delG

2 papers

NM_001079866.2

p.R56Q

c.167G>A

43 papers

NM_001079866.2

p.R56*

c.166C>T