Variant ID: 20-43030106-C-T

NM_000457.4(HNF4A):c.94C>T;(p.Gln32*)

This variant was identified in 2 publications




Publications:


Loss-of-function mutations in Zn-finger DNA-binding domain of HNF4A cause aberrant transcriptional regulation in liver cancer.

Oncotarget
H Taniguchi, A Fujimoto, H Kono, M Furuta, M Fujita, H Nakagawa
Publication Date: 2018-05-25

Variant appearance in text: HNF4A: Q32X
PMID: 29899848
View BVdb publication page



Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology
OA Panagiotou, E Evangelou, JP Ioannidis
Publication Date: 2010-10-15

Variant appearance in text: HNF4A: Gln32Ter
PMID: 20876667
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000316099.4 c.94C>T p.Gln32* stop_gained 1/10 -
ENST00000316673.4 c.50-4592C>T - intron_variant - 1/9
ENST00000372920.1 c.94C>T p.Gln32* stop_gained,NMD_transcript_variant 1/11 -
ENST00000415691.2 c.94C>T p.Gln32* stop_gained 1/10 -
ENST00000443598.2 c.94C>T p.Gln32* stop_gained 1/8 -
ENST00000457232.1 c.50-4592C>T - intron_variant - 1/9
ENST00000609262.1 c.41-4592C>T - intron_variant - 2/3
ENST00000609795.1 c.50-4592C>T - intron_variant - 1/7
NM_000457.4 c.94C>T p.Gln32* stop_gained 1/10 -
NM_001030003.3 c.50-4592C>T - intron_variant - 1/9
NM_001030004.3 c.50-4592C>T - intron_variant - 1/7
NM_001258355.2 c.-19C>T - 5_prime_UTR_variant 1/11 -
NM_001287182.2 c.41-4592C>T - intron_variant - 2/10
NM_001287183.1 c.41-4592C>T - intron_variant - 2/10
NM_001287184.2 c.41-4592C>T - intron_variant - 2/8
NM_175914.4 c.50-4592C>T - intron_variant - 1/9
NM_178849.3 c.94C>T p.Gln32* stop_gained 1/10 -
NM_178850.3 c.94C>T p.Gln32* stop_gained 1/8 -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -
- - TF_binding_site_variant - -