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PC c.581A>C ;(p.K194T)
Variant ID: 11-66638575-T-G
NM_001040716.1(
PC
):c.581A>C;(p.K194T)
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:
Kei1: a novel subunit of inositolphosphorylceramide synthase, essential for its enzyme activity and Golgi localization.
Molecular Biology Of The Cell
Sato, Keisuke K; Noda, Yoichi Y; Yoda, Koji K
Publication Date: 2009-10
Variant appearance in text: PC: K194T
PubMed Link:
19726565
Variant Present in the following documents:
Main text
View BVdb publication page