FRY FRY microtubule binding protein

Annotation transcript: NM_023037.3

154 unique variant annotations were identified in 316 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
13-32627648-G-A c.70+21646G>A - IntronicSNV - 1/60 2
13-32627648-G-C c.70+21646G>C - IntronicSNV - 1/60 2
13-32634424-T-C c.71-18547T>C - IntronicSNV - 1/60 1
13-32638866-A-G c.71-14105A>G - IntronicSNV - 1/60 3
13-32638866-A-T c.71-14105A>T - IntronicSNV - 1/60 3
13-32652972-T-A c.72T>A p.T24= Synonymous 2/61 - 1
13-32653025-C-T c.125C>T p.T42M Missense 2/61 - 1
13-32653148-G-A c.248G>A p.R83H Missense 2/61 - 1
13-32677424-T-A c.324+1271T>A - IntronicSNV - 3/60 1
13-32677424-T-C c.324+1271T>C - IntronicSNV - 3/60 1
13-32690975-G-A c.325-496G>A - IntronicSNV - 3/60 1
13-32691481-C-T c.335C>T p.S112L Missense 4/61 - 1
13-32691529-T-C c.383T>C p.L128S Missense 4/61 - 1
13-32691570-TCA-AAC c.424_426delinsAAC p.S142N Missense 4/61 - 1
13-32691610-G-GCGAT c.464_464+1insCGAT p.E157Rfs*2 SpliceDonorInsertion - - 1
13-32691612-T-A c.464+2T>A - IntronicSNV - 4/60 1
13-32698445-T-A c.487T>A p.L163I Missense 5/61 - 1
13-32698466-G-A c.508G>A p.A170T Missense 5/61 - 1
13-32698790-G-T c.607G>T p.A203S Missense 6/61 - 1
13-32705856-G-C c.764G>C p.R255P Missense 8/61 - 1
13-32705858-C-T c.766C>T p.H256Y Missense 8/61 - 1
13-32705942-GTG-ATC c.850_852delinsATC p.V284I Missense 8/61 - 1
13-32708478-T-C c.886-563T>C - IntronicSNV - 8/60 2
13-32708993-T-C c.886-48T>C - IntronicSNV - 8/60 1
13-32709054-A-T c.899A>T p.Y300F Missense 9/61 - 1
13-32709088-T-C c.933T>C p.H311= Synonymous 9/61 - 1
13-32709128-G-A c.973G>A p.A325T Missense 9/61 - 1
13-32709243-G-A c.1000G>A p.V334I Missense 10/61 - 1
13-32709287-G-A c.1044G>A p.T348= Synonymous 10/61 - 1
13-32721426-A-T c.1187A>T p.D396V Missense 12/61 - 1
13-32721489-G-T c.1250G>T p.R417L Missense 12/61 - 1
13-32731503-A-G c.1745A>G p.N582S Missense 16/61 - 1
13-32735285-G-A c.1789G>A p.E597K Missense 17/61 - 1
13-32735319-G-A c.1823G>A p.C608Y Missense 17/61 - 1
13-32735325-C-T c.1829C>T p.A610V Missense 17/61 - 1
13-32735351-TGGGA-T c.1855_1858del p.G619Cfs*55 Frameshift 17/61 - 1
13-32747510-G-A c.2158G>A p.A720T Missense 19/61 - 1
13-32747582-T-C c.2230T>C p.F744L Missense 19/61 - 1
13-32747582-TT-GC c.2230_2231delinsGC p.F744A Missense 19/61 - 1
13-32747584-T-A c.2232T>A p.F744L Missense 19/61 - 1
13-32747584-T-G c.2232T>G p.F744L Missense 19/61 - 1
13-32747622-G-A c.2270G>A p.R757H Missense 19/61 - 1
13-32749745-T-G c.2397T>G p.F799L Missense 20/61 - 1
13-32752418-G-A c.2526G>A p.W842* Nonsense 21/61 - 1
13-32752473-C-T c.2581C>T p.R861W Missense 21/61 - 1
13-32752539-C-G c.2647C>G p.R883G Missense 21/61 - 1
13-32753050-T-A c.2751T>A p.N917K Missense 22/61 - 1
13-32753050-T-G c.2751T>G p.N917K Missense 22/61 - 1
13-32753167-C-T c.2868C>T p.N956= Synonymous 22/61 - 1
13-32753828-C-T c.2888C>T p.S963L Missense 23/61 - 1
13-32753878-A-G c.2938A>G p.I980V Missense 23/61 - 1
13-32755257-G-A c.2996+1321G>A - IntronicSNV - 23/60 1
13-32757157-G-C c.3040G>C p.E1014Q Missense 24/61 - 1
13-32759132-C-T c.3166C>T p.R1056W Missense 26/61 - 1
13-32759184-G-A c.3218G>A p.R1073H Missense 26/61 - 1
13-32760405-C-T c.3328C>T p.R1110* Nonsense 27/61 - 1
13-32761791-C-T c.3589C>T p.R1197* Nonsense 28/61 - 1
13-32763757-A-G c.3591+1964A>G - IntronicSNV - 28/60 1
13-32768298-G-A c.3610G>A p.E1204K Missense 29/61 - 1
13-32768307-G-A c.3619G>A p.V1207I Missense 29/61 - 1
13-32776095-T-G c.3764T>G p.I1255R Missense 30/61 - 1
13-32776153-T-C c.3822T>C p.Y1274= Synonymous 30/61 - 1
13-32776154-G-T c.3823G>T p.E1275* Nonsense 30/61 - 1
13-32776576-G-A c.3930G>A p.P1310= Synonymous 31/61 - 1
13-32776595-G-A c.3949G>A p.V1317M Missense 31/61 - 1
13-32776603-T-A c.3957T>A p.L1319= Synonymous 31/61 - 1
13-32776603-T-C c.3957T>C p.L1319= Synonymous 31/61 - 1
13-32776603-T-G c.3957T>G p.L1319= Synonymous 31/61 - 1
13-32776616-T-A c.3970T>A p.C1324S Missense 31/61 - 1
13-32776617-G-C c.3971G>C p.C1324S Missense 31/61 - 1
13-32783071-T-A c.4100T>A p.I1367N Missense 32/61 - 1
13-32783072-C-A c.4101C>A p.I1367= Synonymous 32/61 - 1
13-32783072-C-T c.4101C>T p.I1367= Synonymous 32/61 - 1
13-32783127-G-A c.4156G>A p.D1386N Missense 32/61 - 1
13-32783135-C-G c.4164C>G p.V1388= Synonymous 32/61 - 1
13-32783160-G-T c.4189G>T p.A1397S Missense 32/61 - 1
13-32783239-C-T c.4268C>T p.T1423M Missense 32/61 - 1
13-32783784-G-C c.4338G>C p.E1446D Missense 33/61 - 1
13-32785166-C-A c.4586C>A p.A1529D Missense 34/61 - 1
13-32786449-A-G c.4612A>G p.T1538A Missense 35/61 - 1
13-32786496-G-C c.4659G>C p.K1553N Missense 35/61 - 1
13-32786506-G-A c.4669G>A p.E1557K Missense 35/61 - 1
13-32797198-A-C c.4766-1174A>C - IntronicSNV - 36/60 1
13-32798510-G-T c.4904G>T p.G1635V Missense 37/61 - 1
13-32798953-G-A c.4917-117G>A - IntronicSNV - 37/60 1
13-32799094-G-A c.4941G>A p.M1647I Missense 38/61 - 1
13-32799094-G-C c.4941G>C p.M1647I Missense 38/61 - 1
13-32799094-G-T c.4941G>T p.M1647I Missense 38/61 - 1
13-32799098-TG-T c.4945del p.E1649Kfs*25 Frameshift 38/61 - 1
13-32799099-A-T c.4946A>T p.E1649V Missense 38/61 - 1
13-32799122-C-T c.4969C>T p.R1657* Nonsense 38/61 - 1
13-32799164-G-A c.5011G>A p.V1671I Missense 38/61 - 1
13-32800015-C-T c.5110C>T p.H1704Y Missense 39/61 - 1
13-32800057-G-A c.5152G>A p.E1718K Missense 39/61 - 1
13-32800075-G-A c.5170G>A p.V1724M Missense 39/61 - 1
13-32800816-T-C c.5206+705T>C - IntronicSNV - 39/60 1
13-32802598-T-C c.5212T>C p.F1738L Missense 40/61 - 1
13-32802772-A-C c.5386A>C p.I1796L Missense 40/61 - 1
13-32802791-G-T c.5405G>T p.R1802M Missense 40/61 - 1
13-32805415-T-A c.5505T>A p.S1835= Synonymous 41/61 - 1
13-32810309-G-GCTCTTCCTCACCAGATTTAAGCTCCAGCAGTAAACTAACAGCAAGCAGAAA c.5810_5810+1insCTCTTCCTCACCAGATTTAAGCTCCAGCAGTAAACTAACAGCAAGCAGAAA p.R1953_K1954insNSSSPDLSSSSKLTASR SpliceDonorInsertion - - 1
13-32811607-G-A c.5902G>A p.G1968S Missense 44/61 - 2
13-32811631-A-AACT c.5926_5927insACT p.S1976delinsNC MultiAAMissense 44/61 - 1
13-32811644-G-A c.5939G>A p.R1980Q Missense 44/61 - 1
13-32811742-G-A c.6037G>A p.G2013S Missense 44/61 - 1
13-32811751-T-G c.6046T>G p.S2016A Missense 44/61 - 1
13-32811768-A-C c.6063A>C p.S2021= Synonymous 44/61 - 1
13-32811768-A-G c.6063A>G p.S2021= Synonymous 44/61 - 1
13-32811768-A-T c.6063A>T p.S2021= Synonymous 44/61 - 1
13-32813873-A-C c.6542A>C p.K2181T Missense 46/61 - 1
13-32813873-A-G c.6542A>G p.K2181R Missense 46/61 - 1
13-32813896-A-G c.6565A>G p.M2189V Missense 46/61 - 1
13-32814011-T-A c.6680T>A p.L2227Q Missense 46/61 - 1
13-32818314-G-C c.6823G>C p.V2275L Missense 47/61 - 1
13-32818314-G-T c.6823G>T p.V2275L Missense 47/61 - 1
13-32821508-C-T c.6877C>T p.R2293W Missense 48/61 - 1
13-32821628-G-A c.6997G>A p.D2333N Missense 48/61 - 1
13-32821636-G-A c.7005G>A p.S2335= Synonymous 48/61 - 1
13-32823672-A-C c.7018A>C p.I2340L Missense 49/61 - 1
13-32823691-A-G c.7037A>G p.E2346G Missense 49/61 - 1
13-32823768-G-T c.7114G>T p.G2372C Missense 49/61 - 1
13-32826032-G-C c.7188G>C p.K2396N Missense 50/61 - 1
13-32826032-G-T c.7188G>T p.K2396N Missense 50/61 - 1
13-32826041-T-C c.7197T>C p.H2399= Synonymous 50/61 - 1
13-32826049-C-G c.7205C>G p.S2402C Missense 50/61 - 1
13-32828452-T-C c.7337T>C p.M2446T Missense 51/61 - 1
13-32835823-T-C c.7487T>C p.M2496T Missense 52/61 - 1
13-32835888-G-T c.7552G>T p.D2518Y Missense 52/61 - 1
13-32836455-T-C c.7622T>C p.M2541T Missense 53/61 - 1
13-32836505-G-C c.7672G>C p.A2558P Missense 53/61 - 1
13-32836612-G-C c.7779G>C p.K2593N Missense 53/61 - 1
13-32836612-G-T c.7779G>T p.K2593N Missense 53/61 - 1
13-32839990-G-A c.7946+237G>A - IntronicSNV - 54/60 3
13-32841311-G-T c.7951G>T p.G2651* Nonsense 55/61 - 1
13-32841338-C-T c.7978C>T p.P2660S Missense 55/61 - 1
13-32841345-C-T c.7985C>T p.S2662L Missense 55/61 - 1
13-32841451-C-T c.8091C>T p.G2697= Synonymous 55/61 - 1
13-32841495-A-G c.8135A>G p.K2712R Missense 55/61 - 1
13-32841619-C-T c.8136+123C>T - IntronicSNV - 55/60 1
13-32842335-C-T c.8136+839C>T - IntronicSNV - 55/60 1
13-32849039-C-A c.8197C>A p.L2733I Missense 56/61 - 1
13-32852868-G-T c.8469+183G>T - IntronicSNV - 58/60 17
13-32859423-C-A c.8470-4347C>A - IntronicSNV - 58/60 1
13-32859423-C-G c.8470-4347C>G - IntronicSNV - 58/60 1
13-32863800-C-A c.8500C>A p.L2834I Missense 59/61 - 1
13-32868581-C-T c.8657C>T p.P2886L Missense 60/61 - 1
13-32868620-C-T c.8696C>T p.T2899M Missense 60/61 - 1
13-32869444-T-C c.8889T>C p.Y2963= Synonymous 61/61 - 1
13-32869452-T-TTTTTAATGATAC c.8897_8898insTTTTAATGATAC p.V2966_G2967insFNDT InFrameInsertion 61/61 - 1
13-32869464-A-G c.8909A>G p.Q2970R Missense 61/61 - 1
13-32869527-G-A c.8972G>A p.R2991H Missense 61/61 - 1
13-32869864-G-A c.*267G>A - 3-UTRSNV 61/61 - 2
13-32873110-C-T c.*3513C>T - IntergenicSNV 61/61 - 1462
13-32873175-T-C c.*3578T>C - IntergenicSNV 61/61 - 2147