Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TIMM23B

TIMM23B

10q11.23 (UCSC)OMIM GTEx

9 papers

Pfam Domains

Tim17aa 76–186UCSCTim17/Tim22/Tim23/Pmp24 family

Gene Aliases

HGNC Name

translocase of inner mitochondrial membrane 23 homolog B

HGNC Alias Symbol

bA592B15.7

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr10:49945052 T>A

NM_001290117.2

p.C43S

c.127T>A

exact variant not in gnomAD30 overlapping SVs

chr10:49945053 G>C

NM_001290117.2

p.C43S

c.128G>C

Exome: 90.6% (AC=1303338, hom=594337)Genome: 90.6% (AC=137733, hom=62841)30 overlapping SVs

chr10:49952206 G>C

NM_001290117.2

p.G82G

c.246G>C

Exome: 0.2% (AC=2338, hom=44)Genome: 0.1% (AC=156, hom=4)27 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."