PCIF1 PDX1 C-terminal inhibiting factor 1

Canonical transcript: NM_022104

14 unique variant annotations were identified in 111 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
20-44564682-G-A c.-188+1239G>A - intron_variant - 1/16 1
20-44564682-G-T c.-188+1239G>T - intron_variant - 1/16 1
20-44569241-A-G c.377A>G p.Lys126Arg Missense 5/17 - 1
20-44569930-C-T c.673+84C>T - IntronicSNV - 7/16 3
20-44570192-C-T c.673+346C>T - IntronicSNV - 7/16 4
20-44570683-C-T c.673+837C>T - IntronicSNV - 7/16 1
20-44571317-G-A c.674-419G>A - IntronicSNV - 7/16 1
20-44571317-G-T c.674-419G>T - IntronicSNV - 7/16 1
20-44571756-T-G c.694T>G p.Ser232Ala Missense 8/17 - 1
20-44573716-A-G c.1168+47A>G - IntronicSNV - 11/16 1
20-44574533-C-T c.1341+11C>T - IntronicSNV - 12/16 1
20-44574658-C-T c.1342-10C>T - IntronicSNV - 12/16 1
20-44575493-C-T c.1614-219C>T - IntronicSNV - 14/16 2
20-44576502-T-C c.*108T>C - 3-UTRSNV 17/17 - 77