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

1 paper

NM_016360.4

p.F52L

c.154T>C

Surrounding Variants

1 paper

NM_016360.4

p.F52L

c.156T>A

1 paper

NM_016360.4

p.F52L

c.156T>G

1 paper

NM_016360.4

p.A55T

c.163G>A

1 paper

NM_016360.4

p.V56I

c.166G>A

1 paper

NM_016360.4

p.E38D

c.114G>C

1 paper

NM_016360.4

p.E38D

c.114G>T

1 paper

NM_016360.4

p.S35F

c.104C>T

1 paper

NM_016360.4

p.S35A

c.103T>G

1 paper

NM_016360.4

p.I69delFs

c.207delC

1 paper

NM_016360.4

p.K70fs

c.208_209fs

1 paper

NM_016360.4

p.D31N

c.91G>A

1 paper

NM_016360.4

p.P29L

c.86C>T