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

1–12 of 47 variants

9 papers

NM_016360.4

p.H158insFs

c.472_473insC

5 papers

NM_016360.4

p.I164N

c.491T>A

3 papers

NM_016360.4

p.R180C

c.538C>T

2 papers

NM_016360.4

p.R141*

c.421C>T

2 papers

NM_016360.4

p.R205H

c.614G>A

2 papers

NM_016360.4

p.E226*

c.676G>T

1 paper

NM_016360.4

p.A12delFs

c.35delC

1 paper

NM_016360.4

p.C16*

c.48C>A

1 paper

NM_016360.4

p.L17*

c.50T>A

1 paper

NM_016360.4

p.G21V

c.62G>T

1 paper

NM_016360.4

p.V24delFs

c.72delC

1 paper

NM_016360.4

p.R25G

c.73A>G