HR c.580A>C ;(p.K194Q)

Variant ID: 8-21986104-T-G

NM_005144.4(HR):c.580A>C;(p.K194Q)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The mitochondrial carrier pathway transports non-canonical substrates with an odd number of transmembrane segments.

Bmc Biology
Rampelt, Heike H; Sucec, Iva I; Bersch, Beate B; Horten, Patrick P; Perschil, Inge I; Martinou, Jean-Claude JC; van der Laan, Martin M; Wiedemann, Nils N; Schanda, Paul P; Pfanner, Nikolaus N
Publication Date: 2020-01-06

Variant appearance in text: HR: K194Q
PubMed Link: 31907035
Variant Present in the following documents:
  • Main text
  • 12915_2019_Article_733.pdf
View BVdb publication page