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.L313F

c.937C>T

Surrounding Variants

3 papers

NM_001079866.2

p.L307F

c.919C>T

13 papers

NM_001079866.2

p.R306H

c.917G>A

8 papers

NM_001079866.2

p.R306C

c.916C>T

1 paper

NM_001079866.2

p.S321delFs

c.961delT

1 paper

NM_001079866.2

p.T322T

c.966C>T

12 papers

NM_001079866.2

p.Q302E

c.904C>G

1 paper

NM_001079866.2

p.Y301*

c.903C>A

1 paper

NM_001079866.2

p.Y301*

c.903C>G

4 papers

NM_001079866.2

p.Y301N

c.901T>A

1 paper

NM_001079866.2

p.Y301D

c.901T>G

1 paper

NM_001079866.2

p.V327M

c.979G>A

1 paper

NM_001079866.2

p.V327E

c.980T>A