Varaico: Literature-Extracted Genetic Variants

TOMM70

76 papers

RefSeq Summary

This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precurso...

Pfam Domains

TPR_1aa 114–147UCSCTetratricopeptide repeat

TPR_8aa 329–362UCSCTetratricopeptide repeat

TPR_8aa 401–434UCSCTetratricopeptide repeat

TPR_8aa 476–509UCSCTetratricopeptide repeat

TPR_8aa 547–578UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

translocase of outer mitochondrial membrane 70

HGNC Previous Symbol

TOMM70A

Papers

RefSeq ID

Protein change

DNA change

1–12 of 79 variants

6 papers

NM_014820.5

p.I554F

c.1660A>T

6 papers

NM_014820.5

p.A582V

c.1745C>T

5 papers

NM_014820.5

p.T265M

c.794C>T

5 papers

NM_014820.5

p.T607I

c.1820C>T

2 papers

NM_014820.5

p.E100delFs

c.300delT

2 papers

NM_014820.5

p.E477A

c.1430A>C

2 papers

NM_014820.5

p.Y548C

c.1643A>G

2 papers

NM_014820.5

p.*609Q

c.1825T>C

1 paper

NM_014820.5

p.M1L

c.1A>T

1 paper

NM_014820.5

p.M1L

c.1A>C

1 paper

NM_014820.5

p.M1K

c.2T>A

1 paper

NM_014820.5

p.S4T

c.10T>A