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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TIMM9

TIMM9

9 papers

RefSeq Summary

TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertio...

Pfam Domains

zf-Tim10_DDPaa 7–69UCSCTim10/DDP family zinc finger

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane 9

HGNC Alias Symbol

TIM9A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr14:58411939 C>CA

NM_012460.4

p.A2insFs

c.6dupT

exact variant not in gnomAD18 overlapping SVs

1 paper

chr14:58411918 G>T

NM_012460.4

p.Q10K

c.28C>A

zf-Tim10_DDP

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 overlapping SVs

1 paper

chr14:58409158 G>A

NM_012460.4

p.S49L

c.146C>T

zf-Tim10_DDP

exact variant not in gnomAD17 overlapping SVs

1 paper

chr14:58409068 G>T

NM_012460.4

p.A79E

c.236C>A

zf-Tim10_DDP

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)17 overlapping SVs

1 paper

chr14:58409039 G>A

NM_012460.4

p.R89*

c.265C>T

Exome: 0.0% (AC=18, hom=1)Genome: 0.0% (AC=2, hom=0)17 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."