The SFTPC gene homepage

General information
Gene symbol SFTPC
Gene name surfactant protein C
Chromosome 8
Chromosomal band p21
Imprinted Unknown
Genomic reference NG_016968.1
Transcript reference NM_003018.3
Exon/intron information NM_003018.3 exon/intron table
Associated with diseases IPF, SMDP-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Coline van Moorsel
Total number of public variants reported 64
Unique public DNA variants reported 43
Individuals with public variants 71
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 September 17, 2021
Version SFTPC:210917

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_003018.3.
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 https://www.LOVD.nl/SFTPC
HGNC 10802
Entrez Gene 6440
PubMed articles SFTPC
OMIM - Gene 178620
OMIM - Diseases IPF (fibrosis, pulmonary, idiopathic (IPF))
SMDP-2 (surfactant metabolism dysfunction, pulmonary, type 2 (SMDP-2))
HGMD SFTPC
GeneCards SFTPC
GeneTests SFTPC
Orphanet SFTPC


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018791 8 transcript variant 1 NM_003018.3 NP_003009.2 64


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