Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STMP1

Variant:p.K36E

STMP1

7q33 (UCSC)OMIM GTEx

4 papers

Pfam Domains

DUF4535aa 4–44UCSCDomain of unknown function (DUF4535)

Gene Aliases

HGNC Name

short transmembrane mitochondrial protein 1

HGNC Previous Symbol

C7orf73

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr7:135674127 A>G

NM_001130929.2

p.K36E

c.106A>G

Exome: 0.0% (AC=77, hom=0)Genome: 0.0% (AC=3, hom=0)58 overlapping SVs

Surrounding Variants

chr7:135674140 C>T

NM_001130929.2

p.A40V

c.119C>T

Exome: 1.2% (AC=16593, hom=122)Genome: 0.9% (AC=1361, hom=8)58 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."