Varaico: Literature-Extracted Genetic Variants

TACO1

57 papers

RefSeq Summary

This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provi...

Pfam Domains

TACO1_YebC_Naa 61–132UCSCTACO1/YebC protein N-terminal domain

Transcrip_regaa 134–296UCSCTACO1/YebC second and third domain

Gene Aliases

HGNC Name

translational activator of cytochrome c oxidase I

HGNC Previous Symbol

CCDC44

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_016360.4

p.E226*

c.676G>T

Surrounding Variants

1 paper

NM_016360.4

p.E222D

c.666A>C

1 paper

NM_016360.4

p.E222D

c.666A>T

1 paper

NM_016360.4

p.E220D

c.660A>C

1 paper

NM_016360.4

p.E220D

c.660A>T

2 papers

NM_016360.4

p.R205H

c.614G>A

1 paper

NM_016360.4

p.V191insFs

c.572_573ins4

1 paper

NM_016360.4

p.G187R

c.559G>A

1 paper

NM_016360.4

p.G187R

c.559G>C

3 papers

NM_016360.4

p.R180C

c.538C>T

1 paper

NM_016360.4

p.V177G

c.530T>G

1 paper

NM_016360.4

p.K231_F232Splc

c.694-2A>G

1 paper

NM_016360.4

p.L251L

c.751C>T