INF2 gene homepage

General information
Gene symbol INF2
Gene name inverted formin, FH2 and WH2 domain containing
Chromosome 14
Chromosomal band q32.33
Imprinted Unknown
Genomic reference NG_027684.1
Transcript reference NM_022489.3
Exon/intron information NM_022489.3 exon/intron table
Associated with diseases CMTDIE, FSGS-5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 119
Unique public DNA variants reported 94
Individuals with public variants 11
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated May 07, 2020
Version INF2:200507

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_022489.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 23791
Entrez Gene 64423
PubMed articles INF2
OMIM - Gene 610982
OMIM - Diseases CMTDIE (Charcot-Marie-Tooth disease, dominant intermediate, type E (CMTDIE))
FSGS-5 (glomerulosclerosis, segmental, focal, type 5 (FSGS-5))
GeneCards INF2
GeneTests INF2

Active transcripts




NCBI ID     

NCBI Protein ID     

00010029 14 transcript variant 1 NM_022489.3 NP_071934.3 119

Copyright & disclaimer
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