Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TIMM8B

TIMM8B

4 papers

RefSeq Summary

This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the interme...

Pfam Domains

zf-Tim10_DDPaa 14–76UCSCTim10/DDP family zinc finger

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane 8 homolog B

HGNC Alias Symbols

TIM8B; DDP2; FLJ21744; MGC102866; MGC117373

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr11:112086723 T>A

NM_012459.4

p.M1L

c.1A>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a20 overlapping SVs

1 paper

chr11:112086723 T>G

NM_012459.4

p.M1L

c.1A>C

exact variant not in gnomAD20 overlapping SVs

1 paper

chr11:112086722 A>C

NM_012459.4

p.M1R

c.2T>G

exact variant not in gnomAD20 overlapping SVs

1 paper

chr11:112086716 T>A

NM_012459.4

p.E3V

c.8A>T

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)20 overlapping SVs

1 paper

chr11:112085372 A>T

NM_012459.4

p.C59S

c.175T>A

zf-Tim10_DDP

exact variant not in gnomAD19 overlapping SVs

1 paper

chr11:112085371 C>G

NM_012459.4

p.C59S

c.176G>C

zf-Tim10_DDP

Exome: 0.0% (AC=80, hom=0)Genome: 0.0% (AC=1, hom=0)19 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."