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KIF21B c.958G>A ;(p.V320I)
Variant ID: 1-200973526-C-T
NM_001252102.1(
KIF21B
):c.958G>A;(p.V320I)
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:
Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency.
Annals Of The Rheumatic Diseases
Carapito, Raphael R; Carapito, Christine C; Morlon, Aurore A; Paul, Nicodème N; Vaca Jacome, Alvaro Sebastian AS; Alsaleh, Ghada G; Rolli, Véronique V; Tahar, Ouria O; Aouadi, Ismail I; Rompais, Magali M; Delalande, François F; Pichot, Angélique A; Georgel, Philippe P; Messer, Laurent L; Sibilia, Jean J; Cianferani, Sarah S; Van Dorsselaer, Alain A; Bahram, Seiamak S
Publication Date: 2018-11
Variant appearance in text: KIF21B: V320I; rs148683091
PubMed Link:
30030262
Variant Present in the following documents:
annrheumdis-2018-213524supp002.xlsx, sheet 1
View BVdb publication page