ABCA1 c.6091_6093delinsTGT ;(p.K2031C)

Variant ID: 9-107550312-TTT-ACA

NM_005502.3(ABCA1):c.6091_6093delinsTGT;(p.K2031C)

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:

ABCA13 dysfunction associated with psychiatric disorders causes impaired cholesterol trafficking.

The Journal Of Biological Chemistry
Nakato, Mitsuhiro M; Shiranaga, Naoko N; Tomioka, Maiko M; Watanabe, Hitomi H; Kurisu, Junko J; Kengaku, Mineko M; Komura, Naoko N; Ando, Hiromune H; Kimura, Yasuhisa Y; Kioka, Noriyuki N; Ueda, Kazumitsu K
Publication Date: 2021

Variant appearance in text: ABCA1: K2031C
PubMed Link: 33478937
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page