PMID: 33759783

The ABCs of the atypical Fam20 secretory pathway kinases.

The Journal of biological chemistry
CA Worby, JE Mayfield, AJ Pollak, JE Dixon, S Banerjee
2021-01-08

66 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
7-288331-T-G FAM20C c.1007T>G p.Met336Arg Missense 5/10 -
7-295967-C-T FAM20C c.1225C>T p.Arg409Cys Missense 6/10 -
19-49657401-C-T HRC c.1094G>A p.Gly365Asp Missense 1/6 -
19-49658209-A-C HRC c.286T>G p.Ser96Ala Missense 1/6 -
1-55525183-CGG-TGT PCSK9 c.1528_1530delCGGinsTGT p.Arg510Cys Missense 10/12 -
17-66539830-GAAG-G FAM20A c.755_757delTCT p.Phe252delPhe InFrameDeletion 5/11 -
17-66538154-G-A FAM20A c.1081C>T p.Arg361Cys Missense 7/11 -
7-298653-C-T FAM20C c.1487C>T p.Pro496Leu Missense 9/10 -
1-55521821-CG-AA PCSK9 c.955_956delCGinsAA p.Arg319Lys Missense 6/12 -
17-66538857-TCT-T FAM20A c.907_908delAG p.Ser303Cysfs*76 Frameshift 6/11 -
1-179013157-A-G FAM20B c.175A>G p.Thr59Ala Missense 2/8 -
7-295961-T-G FAM20C c.1219T>G p.Trp407Gly Missense 6/10 -
1-179041087-AG-A FAM20B c.1038delG p.Asn347Metfs*4 Frameshift 8/8 -
7-286432-C-A FAM20C c.915C>A p.Tyr305* Nonsense 4/10 -
12-4479730-G-A FGF23 c.535C>T p.Arg179Trp Missense 3/3 -
7-286423-C-A FAM20C c.906C>A p.Phe302Leu Missense 4/10 -
17-66538851-AAA-A FAM20A c.913_914delTT p.Phe305Leufs*74 Frameshift 6/11 -
17-66533875-T-A FAM20A c.1369A>T p.Lys457* Nonsense 11/11 -
17-66551771-A-C FAM20A c.518T>G p.Leu173Arg Missense 2/11 -
7-295964-C-T FAM20C c.1222C>T p.Arg408Trp Missense 6/10 -
17-66533731-AT-A FAM20A c.1513delA p.Ile505Serfs*2 Frameshift 11/11 -
17-66537031-GAGCCG-G FAM20A c.1175_1179delGGCTC p.Arg392Profs*22 Frameshift 8/11 -
17-66538949-ATC-A FAM20A c.813_814delGA - SpliceAcceptorDeletion 6/11 -
7-299863-C-T FAM20C c.1672C>T p.Arg558Trp Missense 10/10 -
7-295878-G-A FAM20C c.1136G>A p.Gly379Glu Missense 6/10 -
17-66596775-GAG-G FAM20A c.34_35delCT p.Leu12Alafs*67 Frameshift 1/11 -
1-179013157-TACCTT-T FAM20B c.175_179delACCTT p.Thr59Alafs*19 Frameshift 2/8 -
17-66550918-T-TT FAM20A c.640dupA - SpliceDonorInsertion 3/11 -
17-66536033-C-T FAM20A c.1294G>A p.Ala432Thr Missense 9/11 -
7-195554-GG-G FAM20C c.606delG p.Trp202Cysfs*62 Frameshift 2/10 -
7-195624-T-A FAM20C c.676T>A p.Trp226Arg Missense 2/10 -
17-66539772-G-GAG FAM20A c.810_811insTC - SpliceDonorInsertion 5/11 -
7-295877-G-A FAM20C c.1135G>A p.Gly379Arg Missense 6/10 -
11-117096734-A-T PCSK7 c.773T>A p.Ile258Asn Missense 6/17 -
17-66539855-G-A FAM20A c.727C>T p.Arg243* Nonsense 5/11 -
17-66596442-GCGCCTCCTGGCTGGCCAGG-G FAM20A c.349_367del19 p.Leu117Cysfs*22 Frameshift 1/11 -
17-66596591-G-A FAM20A c.217C>T p.Arg73* Nonsense 1/11 -
1-179041089-AT-TG FAM20B c.1040_1041delATinsTG p.Asn347Met Missense 8/8 -
1-1159218-C-CT SDF4 c.456_457insA p.Gly153Argfs*11 Frameshift 3/7 -
11-117089205-C-T PCSK7 c.1511G>A p.Arg504His Missense 12/17 -
17-66538937-G-A FAM20A c.826C>T p.Arg276* Nonsense 6/11 -
17-66537002-C-T FAM20A c.1207G>A p.Asp403Asn Missense 8/11 -
7-295970-T-A FAM20C c.1228T>A p.Ser410Thr Missense 6/10 -
17-66539824-T-C FAM20A c.758A>G p.Tyr253Cys Missense 5/11 -
17-66538247-A-G FAM20A c.988T>C p.Cys330Arg Missense 7/11 -
12-4479738-C-T FGF23 c.527G>A p.Arg176Gln Missense 3/3 -
7-296717-G-A FAM20C c.1351G>A p.Asp451Asn Missense 7/10 -
17-66535495-GAG-G FAM20A c.1348_1349delTC p.Ser450Profs*20 Frameshift 10/11 -
17-66536079-C-CC FAM20A c.1248dupG p.Phe417Valfs*7 Frameshift 9/11 -
17-66535532-C-T FAM20A c.1307G>A p.Gly436Glu Missense 10/11 -
7-193695-G-T FAM20C c.496G>T p.Glu166* Nonsense 1/10 -
17-66596545-GA-GG FAM20A c.262_263delTCinsGG p.Ser88Gly Missense 1/11 -
7-208951-G-A FAM20C c.838G>A p.Gly280Arg Missense 3/10 -
7-288306-C-T FAM20C c.982C>T p.Pro328Ser Missense 5/10 -
17-66551883-G-A FAM20A c.406C>T p.Arg136* Nonsense 2/11 -
17-66533798-CC-C FAM20A c.1447delG p.Glu483Lysfs*24 Frameshift 11/11 -
7-296982-C-G FAM20C c.1375C>G p.Arg459Gly Missense 8/10 -
17-66550947-GG-G FAM20A c.612delC p.Leu205Cysfs*11 Frameshift 3/11 -
17-66538848-AGAAA-A FAM20A c.915_918delCTTT p.Phe305Leufs*76 Frameshift 6/11 -
17-66538243-C-T FAM20A c.992G>A p.Gly331Asp Missense 7/11 -
12-56667438-A-C CS c.1163T>G p.Leu388Arg Missense 10/11 -
1-55525300-CGT-TGG PCSK9 c.1645_1647delCGTinsTGG p.Arg549Trp Missense 10/12 -
17-66533812-G-A FAM20A c.1432C>T p.Arg478* Nonsense 11/11 -
17-66536098-GTC-G FAM20A c.1228_1229delGA p.Asp410Profs*5 Frameshift 9/11 -
12-4479729-C-T FGF23 c.536G>A p.Arg179Gln Missense 3/3 -
7-208916-C-T FAM20C c.803C>T p.Thr268Met Missense 3/10 -