PMID: 28748451

The emerging role and targetability of the TCA cycle in cancer metabolism.

Protein & cell
NM Anderson, P Mucka, JG Kern, H Feng
2018-02

235 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-209113117-T-C IDH1 c.390A>G p.Ile130Met Missense 4/10 -
1-17355127-GG-G SDHB c.392delC p.Pro131Hisfs*5 Frameshift 4/8 -
1-17355102-A-G SDHB c.416T>C p.Leu139Pro Missense 4/8 -
1-17371370-GG-G SDHB c.88delC p.Gln30Argfs*47 Frameshift 2/8 -
11-111965539-C-T SDHD c.325C>T p.Gln109* Nonsense 4/4 -
1-17355075-A-T SDHB c.423+20T>A - IntronicSNV - 4/7
2-209113298-C-T IDH1 c.209G>A p.Gly70Asp Missense 4/10 -
11-111965555-TAT-T SDHD c.341_342delAT p.Tyr114Cysfs*76 Frameshift 4/4 -
1-17380442-C-T SDHB c.72+1G>A - IntronicSNV - 1/7
1-17380442-C-A SDHB c.72+1G>T - IntronicSNV - 1/7
1-17359638-C-T SDHB c.203G>A p.Cys68Tyr Missense 3/8 -
11-111957665-G-A SDHD c.34G>A p.Gly12Ser Missense 1/4 -
5-240511-G-T SDHA c.1471G>T p.Glu491* Nonsense 11/15 -
5-226044-T-C SDHA c.503T>C p.Ile168Thr Missense 5/15 -
1-241675397-T-C FH c.425A>G p.Gln142Arg Missense 4/10 -
2-209113192-G-C IDH1 c.315C>G p.Gly105Gly Synonymous 4/10 -
2-209113192-G-T IDH1 c.315C>A p.Gly105Gly Synonymous 4/10 -
2-191766745-G-T GLS c.808G>T p.Gly270* Nonsense 5/15 -
5-254578-G-A SDHA c.1865G>A p.Trp622* Nonsense 14/15 -
2-209113112-C-A IDH1 c.395G>T p.Arg132Leu Missense 4/10 -
1-241669309-G-A FH c.898C>T p.Leu300Phe Missense 6/10 -
11-111965575-C-T SDHD c.361C>T p.Gln121* Nonsense 4/4 -
5-228366-GG-G SDHA c.688delG p.Glu230Serfs*10 Frameshift 6/15 -
1-161332209-C-G SDHC c.496C>G p.Leu166Val Missense 6/6 -
1-17350521-G-A SDHB c.589C>T p.Pro197Ser Missense 6/8 -
1-17350510-C-A SDHB c.600G>T p.Trp200Cys Missense 6/8 -
1-161310428-G-A SDHC c.224G>A p.Gly75Asp Missense 4/6 -
1-241667430-A-T FH c.1020T>A p.Asn340Lys Missense 7/10 -
1-241680592-C-A FH c.157G>T p.Glu53* Nonsense 2/10 -
2-209113113-G-C IDH1 c.394C>G p.Arg132Gly Missense 4/10 -
5-230998-G-A SDHA c.778G>A p.Gly260Arg Missense 7/15 -
11-111958646-A-G SDHD c.118A>G p.Ile40Val Missense 2/4 -
11-111957680-C-T SDHD c.49C>T p.Arg17* Nonsense 1/4 -
1-161298256-C-T SDHC c.148C>T p.Arg50Cys Missense 3/6 -
5-254599-A-T SDHA c.1886A>T p.Tyr629Phe Missense 14/15 -
8-94935146-G-A PDP1 c.859G>A p.Ala287Thr Missense 2/2 -
1-17355205-T-TTGCAGTG SDHB c.312_313insCACTGCA p.Ile105Hisfs*16 Frameshift 4/8 -
11-111959641-G-C SDHD c.220G>C p.Val74Leu Missense 3/4 -
1-241665790-C-T FH c.1189G>A p.Gly397Arg Missense 8/10 -
5-251555-G-A SDHA c.1766G>A p.Arg589Gln Missense 13/15 -
1-17349144-G-A SDHB c.724C>T p.Arg242Cys Missense 7/8 -
11-61205199-A-G SDHAF2 c.139A>G p.Met47Val Missense 2/4 -
1-161293426-C-T SDHC c.43C>T p.Arg15* Nonsense 2/6 -
1-161326622-C-T SDHC c.397C>T p.Arg133* Nonsense 5/6 -
1-17349144-G-T SDHB c.724C>A p.Arg242Ser Missense 7/8 -
1-17349144-G-C SDHB c.724C>G p.Arg242Gly Missense 7/8 -
11-111957633-T-A SDHD c.2T>A p.Met1Lys Missense 1/4 -
11-111957633-T-C SDHD c.2T>C p.Met1Thr Missense 1/4 -
1-17359619-A-ACTGG SDHB c.221_222insCCAG p.Ala75Glnfs*7 Frameshift 3/8 -
11-111965551-TGACT-T SDHD c.337_340delGACT p.Asp113Metfs*21 Frameshift 4/4 -
5-236616-C-T SDHA c.1334C>T p.Ser445Leu Missense 10/15 -
1-17349107-G-A SDHB c.761C>T p.Pro254Leu Missense 7/8 -
2-191788699-A-C GLS c.1187A>C p.Lys396Thr Missense 10/15 -
5-223646-A-T SDHA c.113A>T p.Asp38Val Missense 2/15 -
1-241665842-T-TT FH c.1138dupA p.Met380Asnfs*25 Frameshift 8/10 -
1-241676929-T-G FH c.352A>C p.Asn118His Missense 3/10 -
11-111957645-G-A SDHD c.14G>A p.Trp5* Nonsense 1/4 -
1-17350544-C-T SDHB c.566G>A p.Cys189Tyr Missense 6/8 -
5-224484-C-T SDHA c.160C>T p.Gln54* Nonsense 3/15 -
1-17371377-G-T SDHB c.79C>A p.Arg27Arg Synonymous 2/8 -
1-241665817-AT-A FH c.1162delA p.Met388Trpfs*18 Frameshift 8/10 -
1-161326631-G-A SDHC c.405+1G>A - IntronicSNV - 5/5
1-241667498-G-A FH c.952C>T p.His318Tyr Missense 7/10 -
11-111959663-C-T SDHD c.242C>T p.Pro81Leu Missense 3/4 -
2-209113140-C-T IDH1 c.367G>A p.Gly123Arg Missense 4/10 -
1-17371319-C-T SDHB c.137G>A p.Arg46Gln Missense 2/8 -
1-241671976-GG-G FH c.666delC p.Glu224Serfs*32 Frameshift 5/10 -
2-191775034-C-A GLS c.1025C>A p.Thr342Asn Missense 7/15 -
11-111965555-A-G SDHD c.341A>G p.Tyr114Cys Missense 4/4 -
5-254586-C-T SDHA c.1873C>T p.His625Tyr Missense 14/15 -
5-251542-C-T SDHA c.1753C>T p.Arg585Trp Missense 13/15 -
11-111959723-T-C SDHD c.302T>C p.Leu101Pro Missense 3/4 -
1-241671943-C-T FH c.698G>A p.Arg233His Missense 5/10 -
1-17380467-TT-T SDHB c.49delA p.Thr17Profs*60 Frameshift 1/8 -
11-111958657-G-A SDHD c.129G>A p.Trp43* Nonsense 2/4 -
1-241680558-T-G FH c.191A>C p.Asn64Thr Missense 2/10 -
1-241665769-C-A FH c.1210G>T p.Glu404* Nonsense 8/10 -
1-241667462-T-C FH c.988A>G p.Thr330Ala Missense 7/10 -
11-111957685-T-G SDHD c.52+2T>G - IntronicSNV - 1/3
1-17359572-C-T SDHB c.269G>A p.Arg90Gln Missense 3/8 -
1-17349219-G-A SDHB c.649C>T p.Arg217Cys Missense 7/8 -
1-241669392-A-G FH c.815T>C p.Leu272Pro Missense 6/10 -
2-209113108-A-C IDH1 c.399T>G p.His133Gln Missense 4/10 -
2-209113108-A-T IDH1 c.399T>A p.His133Gln Missense 4/10 -
1-161326467-G-T SDHC c.242G>T p.Gly81Val Missense 5/6 -
11-111958579-A-G SDHD c.53-2A>G - IntronicSNV - 1/3
1-161326627-C-T SDHC c.402C>T p.His134His Synonymous 5/6 -
1-17371380-GAGGC-G SDHB c.73_76delGCCT - SpliceAcceptorDeletion 2/8 -
1-17345441-CC-C SDHB c.780delG p.Ala262Leufs*8 Frameshift 8/8 -
11-61205304-A-T SDHAF2 c.244A>T p.Asn82Tyr Missense 2/4 -
5-225631-A-G SDHA c.410A>G p.Asp137Gly Missense 4/15 -
11-61205232-A-T SDHAF2 c.172A>T p.Arg58* Nonsense 2/4 -
11-111958677-A-G SDHD c.149A>G p.His50Arg Missense 2/4 -
11-111959627-GAGAGGGTTGTCAG-G SDHD c.206_218del13 p.Glu69Valfs*13 Frameshift 3/4 -
11-111959673-T-G SDHD c.252T>G p.Tyr84* Nonsense 3/4 -
11-111959736-G-C SDHD c.314+1G>C - IntronicSNV - 3/3
5-228404-GGTCCATCCATCG-G SDHA c.726_737del12 p.Ser243_arg246del InFrameDeletion 6/15 -
5-236639-G-A SDHA c.1357G>A p.Gly453Arg Missense 10/15 -
2-209113106-G-T IDH1 c.401C>A p.Ala134Asp Missense 4/10 -
1-241669401-A-G FH c.806T>C p.Ile269Thr Missense 6/10 -
8-94934855-C-T PDP1 c.568C>T p.Leu190Phe Missense 2/2 -
5-226101-A-G SDHA c.560A>G p.His187Arg Missense 5/15 -
1-241667390-C-T FH c.1060G>A p.Gly354Arg Missense 7/10 -
1-161298234-G-A SDHC c.126G>A p.Trp42* Nonsense 3/6 -
5-223624-C-T SDHA c.91C>T p.Arg31* Nonsense 2/15 -
8-94935413-T-C PDP1 c.1126T>C p.Leu376Leu Synonymous 2/2 -
5-235449-G-A SDHA c.1255G>A p.Gly419Arg Missense 9/15 -
1-17380494-AG-A SDHB c.21delC p.Ser8Profs*2 Frameshift 1/8 -
11-61213473-C-T SDHAF2 c.431C>T p.Ala144Val Missense 4/4 -
11-111957664-C-T SDHD c.33C>T p.Cys11Cys Synonymous 1/4 -
11-111959605-G-GTC SDHD c.184_185insTC p.Ala62Valfs*25 Frameshift 3/4 -
11-111965531-GG-G SDHD c.317delG p.Gly106Alafs*29 Frameshift 4/4 -
11-111957634-G-C SDHD c.3G>C p.Met1Ile Missense 1/4 -
5-235345-C-G SDHA c.1151C>G p.Ser384* Nonsense 9/15 -
11-111958592-C-T SDHD c.64C>T p.Arg22* Nonsense 2/4 -
5-231038-C-T SDHA c.818C>T p.Thr273Ile Missense 7/15 -
1-17371301-AG-A SDHB c.155delC p.Ala52Valfs*25 Frameshift 2/8 -
1-17355094-C-G SDHB c.423+1G>C - IntronicSNV - 4/7
5-225655-A-G SDHA c.434A>G p.Gln145Arg Missense 4/15 -
5-240574-C-T SDHA c.1534C>T p.Arg512* Nonsense 11/15 -
11-111965600-T-TT SDHD c.386dupT p.Leu129Phefs*62 Frameshift 4/4 -
11-111965581-G-A SDHD c.367G>A p.Ala123Thr Missense 4/4 -
1-161284201-CT-C SDHC c.6delT p.Ala3Argfs*4 Frameshift 1/6 -
1-17354244-C-T SDHB c.540G>A p.Leu180Leu Synonymous 5/8 -
1-17350523-C-T SDHB c.587G>A p.Cys196Tyr Missense 6/8 -
5-223681-TT-T SDHA c.148delT p.Ser50Profs*8 Frameshift 2/15 -
1-161332168-G-C SDHC c.455G>C p.Gly152Ala Missense 6/6 -
1-17349143-C-T SDHB c.725G>A p.Arg242His Missense 7/8 -
1-17355233-T-C SDHB c.287-2A>G - IntronicSNV - 3/7
1-161326574-A-G SDHC c.349A>G p.Lys117Glu Missense 5/6 -
5-251583-G-C SDHA c.1794G>C p.Lys598Asn Missense 13/15 -
1-161310418-C-T SDHC c.214C>T p.Arg72Cys Missense 4/6 -
5-233664-G-A SDHA c.968G>A p.Gly323Asp Missense 8/15 -
11-61205273-C-T SDHAF2 c.213C>T p.Leu71Leu Synonymous 2/4 -
11-111959695-G-T SDHD c.274G>T p.Asp92Tyr Missense 3/4 -
1-241669386-G-A FH c.821C>T p.Ala274Val Missense 6/10 -
5-233685-A-G SDHA c.989A>G p.Tyr330Cys Missense 8/15 -
5-231020-C-T SDHA c.800C>T p.Thr267Met Missense 7/15 -
2-191769795-C-A GLS c.881C>A p.Ala294Asp Missense 6/15 -
1-17349179-C-A SDHB c.689G>T p.Arg230Leu Missense 7/8 -
1-17349179-C-T SDHB c.689G>A p.Arg230His Missense 7/8 -
X-19372658-A-G PDHA1 c.560A>G p.Asp187Gly Missense 6/11 -
5-226094-C-T SDHA c.553C>T p.Gln185* Nonsense 5/15 -
5-228445-C-T SDHA c.767C>T p.Thr256Ile Missense 6/15 -
1-161326553-C-T SDHC c.328C>T p.Pro110Ser Missense 5/6 -
1-161298184-A-G SDHC c.78-2A>G - IntronicSNV - 2/5
1-161298281-T-C SDHC c.173T>C p.Ile58Thr Missense 3/6 -
1-17355225-C-T SDHB c.293G>A p.Cys98Tyr Missense 4/8 -
1-161293406-A-AA SDHC c.23_23dupA p.His8Glnfs*12 Frameshift 2/6 -
2-209113113-G-T IDH1 c.394C>A p.Arg132Ser Missense 4/10 -
1-17349215-C-T SDHB c.653G>A p.Trp218* Nonsense 7/8 -
5-226052-C-T SDHA c.511C>T p.Arg171Cys Missense 5/15 -
1-161298220-A-G SDHC c.112A>G p.Met38Val Missense 3/6 -
1-241665745-AT-A FH c.1234delA p.Met412*fs*1 Frameshift 8/10 -
5-226110-G-T SDHA c.569G>T p.Cys190Phe Missense 5/15 -
1-17345441-C-G SDHB c.778G>C p.Gly260Arg Missense 8/8 -
11-111965566-GG-G SDHD c.352delG p.Asp118Metfs*17 Frameshift 4/4 -
8-94935552-A-G PDP1 c.1265A>G p.Glu422Gly Missense 2/2 -
5-226110-G-A SDHA c.569G>A p.Cys190Tyr Missense 5/15 -
5-233681-C-T SDHA c.985C>T p.Arg329* Nonsense 8/15 -
5-236643-C-A SDHA c.1361C>A p.Ala454Glu Missense 10/15 -
11-111958640-C-T SDHD c.112C>T p.Arg38* Nonsense 2/4 -
11-111959651-T-G SDHD c.230T>G p.Leu77Arg Missense 3/4 -
5-251554-C-T SDHA c.1765C>T p.Arg589Trp Missense 13/15 -
5-236676-G-A SDHA c.1394G>A p.Arg465Gln Missense 10/15 -
5-225615-T-C SDHA c.394T>C p.Trp132Arg Missense 4/15 -
11-111959629-A-G SDHD c.208A>G p.Arg70Gly Missense 3/4 -
1-17349102-C-T SDHB c.765+1G>A - IntronicSNV - 7/7
1-161326631-G-T SDHC c.405+1G>T - IntronicSNV - 5/5
1-17359573-G-A SDHB c.268C>T p.Arg90* Nonsense 3/8 -
1-161326605-A-G SDHC c.380A>G p.His127Arg Missense 5/6 -
1-241669371-A-T FH c.836T>A p.Val279Asp Missense 6/10 -
1-161284196-A-G SDHC c.1A>G p.Met1Val Missense 1/6 -
1-17380483-C-T SDHB c.32G>A p.Arg11His Missense 1/8 -
1-17355219-G-A SDHB c.299C>T p.Ser100Phe Missense 4/8 -
8-94935156-G-A PDP1 c.869G>A p.Gly290Asp Missense 2/2 -
2-209113296-C-T IDH1 c.211G>A p.Val71Ile Missense 4/10 -
11-111957681-G-T SDHD c.50G>T p.Arg17Leu Missense 1/4 -
5-256509-G-A SDHA c.1969G>A p.Val657Ile Missense 15/15 -
1-241682911-G-GT FH c.111_112insA p.Pro38Thrfs*18 Frameshift 1/10 -
1-241665856-GT-G FH c.1123delA p.Thr375Leufs*6 Frameshift 8/10 -
1-17349180-G-A SDHB c.688C>T p.Arg230Cys Missense 7/8 -
1-17371315-C-T SDHB c.141G>A p.Trp47* Nonsense 2/8 -
1-241665835-T-C FH c.1144A>G p.Met382Val Missense 8/10 -
1-17359603-T-C SDHB c.238A>G p.Lys80Glu Missense 3/8 -
1-241667448-A-C FH c.1002T>G p.Ser334Arg Missense 7/10 -
14-62200939-A-G HIF1A c.964A>G p.Thr322Ala Missense 8/15 -
1-17350571-T-C SDHB c.541-2A>G - IntronicSNV - 5/7
1-17349132-T-A SDHB c.736A>T p.Ile246Phe Missense 7/8 -
5-228399-G-A SDHA c.721G>A p.Asp241Asn Missense 6/15 -
5-231111-T-A SDHA c.891T>A p.Pro297Pro Synonymous 7/15 -
1-161310395-CCCATGGCGATGTCCATC-C SDHC c.191_207del17 p.Pro64Leufs*28 Frameshift 4/6 -
1-161284198-G-A SDHC c.3G>A p.Met1Ile Missense 1/6 -
1-17349218-C-A SDHB c.650G>T p.Arg217Leu Missense 7/8 -
5-223601-C-T SDHA c.68C>T p.Pro23Leu Missense 2/15 -
11-111957664-C-A SDHD c.33C>A p.Cys11* Nonsense 1/4 -
1-17355138-A-C SDHB c.380T>G p.Ile127Ser Missense 4/8 -
1-17349154-AGA-A SDHB c.718_719delCT p.Leu240Ilefs*15 Frameshift 7/8 -
1-161310414-C-G SDHC c.210C>G p.Cys70Trp Missense 4/6 -
1-161310422-G-GA SDHC c.218_219insA p.Thr74Hisfs*24 Frameshift 4/6 -
11-111958634-C-T SDHD c.106C>T p.Gln36* Nonsense 2/4 -
5-224536-G-A SDHA c.212G>A p.Gly71Glu Missense 3/15 -
1-161332152-C-T SDHC c.439C>T p.Gln147* Nonsense 6/6 -
11-61205481-T-C SDHAF2 c.266T>C p.Phe89Ser Missense 3/4 -
5-226103-C-T SDHA c.562C>T p.Arg188Trp Missense 5/15 -
1-17350553-C-T SDHB c.557G>A p.Cys186Tyr Missense 6/8 -
1-17355218-A-G SDHB c.300T>C p.Ser100Ser Synonymous 4/8 -
5-224615-G-A SDHA c.291G>A p.Arg97Arg Synonymous 3/15 -
11-111959655-GTCTGCTTCCG-G SDHD c.234_243delTCTGCTTCCG p.Pro81Ilefs*2 Frameshift 3/4 -
1-17355094-C-T SDHB c.423+1G>A - IntronicSNV - 4/7
1-241680517-TT-T FH c.233delA p.Asn78Thrfs*7 Frameshift 2/10 -
1-161293422-C-A SDHC c.39C>A p.Cys13* Nonsense 2/6 -
1-241676976-G-C FH c.305C>G p.Ala102Gly Missense 3/10 -
11-111959705-T-C SDHD c.284T>C p.Leu95Pro Missense 3/4 -
1-17371320-G-C SDHB c.136C>G p.Arg46Gly Missense 2/8 -
1-17371320-G-A SDHB c.136C>T p.Arg46* Nonsense 2/8 -
11-111965584-TG-T SDHD c.370delG p.Ala124Profs*11 Frameshift 4/4 -
5-254507-G-T SDHA c.1795-1G>T - IntronicSNV - 13/14
2-209113208-C-T IDH1 c.299G>A p.Arg100Gln Missense 4/10 -
11-111959590-G-T SDHD c.170-1G>T - IntronicSNV - 2/3
1-17359567-A-T SDHB c.274T>A p.Ser92Thr Missense 3/8 -
1-241676983-TT-T FH c.299delA p.Lys100Serfs*7 Frameshift 3/10 -
5-231095-T-C SDHA c.875T>C p.Phe292Ser Missense 7/15 -
1-161298167-C-T SDHC c.78-19C>T - IntronicSNV - 2/5
11-61205292-G-A SDHAF2 c.232G>A p.Gly78Arg Missense 2/4 -
1-17359564-A-G SDHB c.277T>C p.Cys93Arg Missense 3/8 -
1-161298274-A-T SDHC c.166A>T p.Ile56Phe Missense 3/6 -
5-218527-CC-C SDHA c.57delC p.Lys20Argfs*38 Frameshift 1/15 -
1-241669383-C-T FH c.824G>A p.Gly275Glu Missense 6/10 -
5-251479-G-A SDHA c.1690G>A p.Glu564Lys Missense 13/15 -
2-209113192-G-A IDH1 c.315C>T p.Gly105Gly Synonymous 4/10 -
2-191792154-G-A GLS c.1371G>A p.Leu457Leu Synonymous 12/15 -
11-111965657-G-T SDHD c.443G>T p.Gly148Val Missense 4/4 -
5-228310-A-G SDHA c.632A>G p.Tyr211Cys Missense 6/15 -
1-17355100-C-A SDHB c.418G>T p.Val140Phe Missense 4/8 -