HFE homeostatic iron regulator

Canonical transcript: NM_000410

165 unique variant annotations were identified in 366 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
6-26087633-G-A c.-36G>A - 5-UTRSNV 1/6 - 1
6-26087668-A-G c.-1A>G - 5-UTRSNV 1/6 - 1
6-26087677-G-C c.9G>C p.Pro3Pro Synonymous 1/6 - 1
6-26087686-G-C c.18G>C p.Arg6Ser Missense 1/6 - 1
6-26087697-T-C c.29T>C p.Leu10Pro Missense 1/6 - 1
6-26087720-GCG-TGT c.52_54delinsTGT p.Ala18Cys Missense 1/6 - 1
6-26087726-CTG-ATC c.58_60delinsATC p.Leu20Ile Missense 1/6 - 1
6-26087741-CTG-ATC c.73_75delinsATC p.Leu25Ile Missense 1/6 - 1
6-26087856-T-A c.76+112T>A - IntronicSNV - 1/5 1
6-26088407-A-G c.76+663A>G - IntronicSNV - 1/5 1
6-26088890-T-C c.76+1146T>C - IntronicSNV - 1/5 4
6-26088890-T-G c.76+1146T>G - IntronicSNV - 1/5 4
6-26089098-C-T c.76+1354C>T - IntronicSNV - 1/5 6
6-26090381-C-G c.77-688C>G - IntronicSNV - 1/5 1
6-26091070-T-A c.78T>A p.Arg26Arg Synonymous 2/6 - 1
6-26091070-T-C c.78T>C p.Arg26Arg Synonymous 2/6 - 1
6-26091070-T-G c.78T>G p.Arg26Arg Synonymous 2/6 - 1
6-26091073-CA-C c.81del p.His28Thrfs*60 Frameshift 2/6 - 1
6-26091080-C-T c.88C>T p.Leu30Leu Synonymous 2/6 - 1
6-26091082-G-A c.90G>A p.Leu30Leu Synonymous 2/6 - 1
6-26091082-G-C c.90G>C p.Leu30Leu Synonymous 2/6 - 1
6-26091082-G-T c.90G>T p.Leu30Leu Synonymous 2/6 - 1
6-26091090-T-C c.98T>C p.Leu33Pro Missense 2/6 - 1
6-26091101-G-A c.109G>A p.Ala37Thr Missense 2/6 - 1
6-26091101-GC-TG c.109_110delinsTG p.Ala37Cys Missense 2/6 - 1
6-26091120-G-A c.128G>A p.Gly43Asp Missense 2/6 - 1
6-26091120-G-C c.128G>C p.Gly43Ala Missense 2/6 - 1
6-26091129-T-G c.137T>G p.Leu46Trp Missense 2/6 - 2
6-26091143-G-T c.151G>T p.Gly51Cys Missense 2/6 - 2
6-26091149-G-A c.157G>A p.Val53Met Missense 2/6 - 10
6-26091167-G-A c.175G>A p.Val59Met Missense 2/6 - 10
6-26091179-CA-GC c.187_188delinsGC p.His63Ala Missense 2/6 - 4
6-26091179-C-G c.187C>G p.His63Asp Missense 2/6 - 742
6-26091179-C-T c.187C>T p.His63Tyr Missense 2/6 - 68
6-26091181-T-C c.189T>C p.His63His Synonymous 2/6 - 13
6-26091184-G-C c.192G>C p.Glu64Asp Missense 2/6 - 1
6-26091184-G-T c.192G>T p.Glu64Asp Missense 2/6 - 1
6-26091185-AG-CT c.193_194inv p.Ser65Leu Missense 2/6 - 1
6-26091185-AG-GA c.193_194delinsGA p.Ser65Asp Missense 2/6 - 3
6-26091185-A-T c.193A>T p.Ser65Cys Missense 2/6 - 122
6-26091187-T-C c.195T>C p.Ser65Ser Synonymous 2/6 - 1
6-26091188-C-T c.196C>T p.Arg66Cys Missense 2/6 - 1
6-26091191-C-T c.199C>T p.Arg67Cys Missense 2/6 - 2
6-26091197-G-GGAG c.205_206insGAG p.Val68_Glu69insGly InFrameInsertion 2/6 - 1
6-26091200-C-T c.208C>T p.Pro70Ser Missense 2/6 - 1
6-26091203-C-T c.211C>T p.Arg71* Nonsense 2/6 - 1
6-26091207-C-G c.215C>G p.Thr72Ser Missense 2/6 - 1
6-26091228-T-A c.236T>A p.Ile79Asn Missense 2/6 - 1
6-26091230-T-C c.238T>C p.Ser80Pro Missense 2/6 - 1
6-26091255-G-C c.263G>C p.Ser88Thr Missense 2/6 - 1
6-26091268-A-C c.276A>C p.Lys92Asn Missense 2/6 - 1
6-26091268-A-T c.276A>T p.Lys92Asn Missense 2/6 - 1
6-26091269-G-A c.277G>A p.Gly93Arg Missense 2/6 - 5
6-26091269-G-C c.277G>C p.Gly93Arg Missense 2/6 - 5
6-26091269-GGG-TGT c.277_279delinsTGT p.Gly93Cys Missense 2/6 - 1
6-26091270-G-C c.278G>C p.Gly93Ala Missense 2/6 - 11
6-26091270-GG-AC c.278_279delinsAC p.Gly93Asp Missense 2/6 - 3
6-26091286-C-A c.294C>A p.Phe98Leu Missense 2/6 - 1
6-26091291-T-C c.299T>C p.Val100Ala Missense 2/6 - 1
6-26091294-A-G c.302A>G p.Asp101Gly Missense 2/6 - 1
6-26091297-TC-GG c.305_306delinsGG p.Phe102Trp Missense 2/6 - 1
6-26091298-TC-T c.306del p.Trp103Glyfs*108 Frameshift 2/6 - 1
6-26091305-A-G c.313A>G p.Ile105Val Missense 2/6 - 1
6-26091306-T-C c.314T>C p.Ile105Thr Missense 2/6 - 5
6-26091332-G-A c.340G>A p.Glu114Lys Missense 2/6 - 2
6-26091336-T-C c.340+4T>C - IntronicSNV - 2/5 11
6-26091547-C-T c.346C>T p.His116Tyr Missense 3/6 - 1
6-26091582-A-C c.381A>C p.Gln127His Missense 3/6 - 10
6-26091582-A-T c.381A>T p.Gln127His Missense 3/6 - 10
6-26091586-G-A c.385G>A p.Asp129Asn Missense 3/6 - 2
6-26091593-AGTACCGAGGGCTA-A c.392_404del p.Ser131Thrfs*76 Frameshift 3/6 - 1
6-26091615-C-A c.414C>A p.Tyr138* Nonsense 3/6 - 2
6-26091615-C-G c.414C>G p.Tyr138* Nonsense 3/6 - 2
6-26091661-G-A c.460G>A p.Asp154Asn Missense 3/6 - 1
6-26091667-AGA-CAT c.466_468delinsCAT p.Arg156His Missense 3/6 - 1
6-26091667-AGA-TGT c.466_468delinsTGT p.Arg156Cys Missense 3/6 - 1
6-26091672-CA-C c.471del p.Ala158Glnfs*53 Frameshift 3/6 - 1
6-26091685-G-A c.484G>A p.Ala162Thr Missense 3/6 - 1
6-26091698-A-G c.497A>G p.Lys166Arg Missense 3/6 - 1
6-26091703-G-C c.502G>C p.Glu168Gln Missense 3/6 - 11
6-26091703-GGAG-G c.502_504del p.Glu168del InFrameDeletion 3/6 - 1
6-26091703-G-T c.502G>T p.Glu168* Nonsense 3/6 - 10
6-26091707-G-A c.506G>A p.Trp169* Nonsense 3/6 - 7
6-26091708-G-A c.507G>A p.Trp169* Nonsense 3/6 - 7
6-26091713-G-T c.512G>T p.Arg171Met Missense 3/6 - 1
6-26091717-C-CC c.516dup p.Lys173Glnfs*71 Frameshift 3/6 - 1
6-26091717-C-G c.516C>G p.His172Gln Missense 3/6 - 1
6-26091728-C-T c.527C>T p.Ala176Val Missense 3/6 - 1
6-26091749-T-C c.548T>C p.Leu183Pro Missense 3/6 - 2
6-26091760-T-G c.559T>G p.Cys187Gly Missense 3/6 - 7
6-26091774-G-T c.573G>T p.Leu191Leu Synonymous 3/6 - 1
6-26091776-A-G c.575A>G p.Gln192Arg Missense 3/6 - 2
6-26091776-A-T c.575A>T p.Gln192Leu Missense 3/6 - 2
6-26091781-TT-CC c.580_581delinsCC p.Leu194Pro Missense 3/6 - 3
6-26091782-T-C c.581T>C p.Leu194Ser Missense 3/6 - 1
6-26092170-G-T c.616+353G>T - IntronicSNV - 3/5 3
6-26092865-C-G c.617-48C>G - IntronicSNV - 3/5 2
6-26092865-C-T c.617-48C>T - IntronicSNV - 3/5 2
6-26092966-C-G c.670C>G p.Arg224Gly Missense 4/6 - 1
6-26092972-C-G c.676C>G p.Arg226Gly Missense 4/6 - 2
6-26092985-A-T c.689A>T p.Tyr230Phe Missense 4/6 - 1
6-26092987-CTAC-C c.691_693del p.Tyr231del InFrameDeletion 4/6 - 1
6-26092989-C-A c.693C>A p.Tyr231* Nonsense 4/6 - 1
6-26092989-C-G c.693C>G p.Tyr231* Nonsense 4/6 - 1
6-26092992-C-A c.696C>A p.Pro232Pro Synonymous 4/6 - 1
6-26092992-C-G c.696C>G p.Pro232Pro Synonymous 4/6 - 1
6-26092992-C-T c.696C>T p.Pro232Pro Synonymous 4/6 - 1
6-26092993-C-T c.697C>T p.Gln233* Nonsense 4/6 - 1
6-26093022-T-C c.726T>C p.Asp242Asp Synonymous 4/6 - 1
6-26093038-G-T c.742G>T p.Ala248Ser Missense 4/6 - 1
6-26093043-G-A c.747G>A p.Lys249Lys Synonymous 4/6 - 1
6-26093062-G-A c.766G>A p.Val256Ile Missense 4/6 - 2
6-26093074-G-A c.778G>A p.Gly260Arg Missense 4/6 - 1
6-26093074-G-C c.778G>C p.Gly260Arg Missense 4/6 - 1
6-26093075-G-A c.779G>A p.Gly260Glu Missense 4/6 - 1
6-26093110-G-C c.814G>C p.Val272Leu Missense 4/6 - 2
6-26093110-G-T c.814G>T p.Val272Leu Missense 4/6 - 2
6-26093125-G-A c.829G>A p.Glu277Lys Missense 4/6 - 3
6-26093134-T-A c.838T>A p.Tyr280Asn Missense 4/6 - 1
6-26093138-C-A c.842C>A p.Thr281Lys Missense 4/6 - 1
6-26093139-G-A c.843G>A p.Thr281Thr Synonymous 4/6 - 2
6-26093140-T-A c.844T>A p.Cys282Ser Missense 4/6 - 1
6-26093140-TG-AC c.844_845delinsAC p.Cys282Thr Missense 4/6 - 4
6-26093141-G-C c.845G>C p.Cys282Ser Missense 4/6 - 1
6-26093141-G-A c.845G>A p.Cys282Tyr Missense 4/6 - 1073
6-26093142-C-T c.846C>T p.Cys282Cys Synonymous 4/6 - 1
6-26093144-A-C c.848A>C p.Gln283Pro Missense 4/6 - 12
6-26093146-G-A c.850G>A p.Val284Met Missense 4/6 - 1
6-26093161-C-T c.865C>T p.Leu289Leu Synonymous 4/6 - 1
6-26093163-G-A c.867G>A p.Leu289Leu Synonymous 4/6 - 1
6-26093163-G-C c.867G>C p.Leu289Leu Synonymous 4/6 - 1
6-26093163-G-T c.867G>T p.Leu289Leu Synonymous 4/6 - 1
6-26093180-T-A c.884T>A p.Val295Glu Missense 4/6 - 1
6-26093180-T-C c.884T>C p.Val295Ala Missense 4/6 - 3
6-26093236-G-A c.892+48G>A - IntronicSNV - 4/5 2
6-26093297-G-A c.893-50G>A - IntronicSNV - 4/5 1
6-26093303-T-C c.893-44T>C - IntronicSNV - 4/5 3
6-26093348-G-C c.894G>C p.Glu298Asp Missense 5/6 - 1
6-26093348-G-T c.894G>T p.Glu298Asp Missense 5/6 - 1
6-26093376-GGA-TGT c.922_924delinsTGT p.Gly308Cys Missense 5/6 - 1
6-26093396-T-A c.942T>A p.Ala314Ala Synonymous 5/6 - 1
6-26093396-T-C c.942T>C p.Ala314Ala Synonymous 5/6 - 1
6-26093396-T-G c.942T>G p.Ala314Ala Synonymous 5/6 - 1
6-26093401-T-G c.947T>G p.Phe316Cys Missense 5/6 - 1
6-26093414-G-GG c.960dup p.Phe321Valfs*26 Frameshift 5/6 - 1
6-26093417-C-G c.963C>G p.Phe321Leu Missense 5/6 - 1
6-26093422-G-T c.968G>T p.Gly323Val Missense 5/6 - 2
6-26093433-AT-GC c.979_980delinsGC p.Ile327Ala Missense 5/6 - 2
6-26093440-T-A c.986T>A p.Leu329* Nonsense 5/6 - 1
6-26093440-T-G c.986T>G p.Leu329* Nonsense 5/6 - 1
6-26093443-G-T c.989G>T p.Arg330Met Missense 5/6 - 3
6-26093446-A-G c.992A>G p.Lys331Arg Missense 5/6 - 1
6-26093448-AG-GC c.994_995delinsGC p.Arg332Ala Missense 5/6 - 1
6-26093448-AGG-CAT c.994_996delinsCAT p.Arg332His Missense 5/6 - 1
6-26093457-TCA-ATG c.1003_1005delinsATG p.Ser335Met Missense 5/6 - 1
6-26093457-T-G c.1003T>G p.Ser335Ala Missense 5/6 - 1
6-26094026-G-A c.1007-388G>A - IntronicSNV - 5/5 7
6-26094026-G-C c.1007-388G>C - IntronicSNV - 5/5 7
6-26094026-G-T c.1007-388G>T - IntronicSNV - 5/5 7
6-26094367-G-A c.1007-47G>A - IntronicSNV - 5/5 7
6-26094367-G-T c.1007-47G>T - IntronicSNV - 5/5 7
6-26094428-CAC-TAA c.1021_1023delinsTAA p.His341* Nonsense 6/6 - 1
6-26094429-CACTACGTCTTAGC-C c.1022_1034del p.His341Leufs*119 Frameshift 6/6 - 1
6-26094432-A-G c.1025A>G p.Tyr342Cys Missense 6/6 - 2
6-26094432-A-T c.1025A>T p.Tyr342Phe Missense 6/6 - 1