ATXN2L ataxin 2 like

Canonical transcript: NM_007245

54 unique variant annotations were identified in 120 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
16-28834607-G-C c.27G>C p.Gln9His Missense 1/22 - 1
16-28834607-G-T c.27G>T p.Gln9His Missense 1/22 - 1
16-28834646-C-A c.66C>A p.Ala22Ala Synonymous 1/22 - 1
16-28834646-C-G c.66C>G p.Ala22Ala Synonymous 1/22 - 1
16-28834646-C-T c.66C>T p.Ala22Ala Synonymous 1/22 - 1
16-28834652-C-A c.72C>A p.Ala24Ala Synonymous 1/22 - 1
16-28834652-C-G c.72C>G p.Ala24Ala Synonymous 1/22 - 1
16-28834652-C-T c.72C>T p.Ala24Ala Synonymous 1/22 - 1
16-28834669-G-A c.89G>A p.Gly30Asp Missense 1/22 - 1
16-28834752-TG-GC c.172_173delinsGC p.Cys58Ala Missense 1/22 - 1
16-28834813-C-T c.233C>T p.Ala78Val Missense 1/22 - 1
16-28834861-C-T c.281C>T p.Ala94Val Missense 1/22 - 1
16-28835900-G-A c.300-787G>A - IntronicSNV - 1/21 2
16-28835900-G-C c.300-787G>C - IntronicSNV - 1/21 2
16-28836205-T-C c.300-482T>C - IntronicSNV - 1/21 5
16-28837203-T-G c.465+41T>G - IntronicSNV - 4/21 3
16-28837515-T-C c.466-46T>C - IntronicSNV - 4/21 67
16-28837515-T-G c.466-46T>G - IntronicSNV - 4/21 66
16-28837589-G-A c.494G>A p.Arg165Gln Missense 5/22 - 1
16-28837600-G-C c.505G>C p.Glu169Gln Missense 5/22 - 1
16-28837601-A-T c.506A>T p.Glu169Val Missense 5/22 - 1
16-28837603-CC-GT c.508_509delinsGT p.Pro170Val Missense 5/22 - 1
16-28837687-G-A c.592G>A p.Val198Ile Missense 5/22 - 1
16-28837906-A-G c.616+195A>G - IntronicSNV - 5/21 7
16-28838073-A-C c.617-110A>C - IntronicSNV - 5/21 3
16-28838073-A-G c.617-110A>G - IntronicSNV - 5/21 3
16-28838188-TT-GC c.622_623delinsGC p.Phe208Ala Missense 6/22 - 1
16-28839392-G-A c.741+1085G>A - IntronicSNV - 6/21 1
16-28839735-C-G c.742-987C>G - IntronicSNV - 6/21 1
16-28839735-C-T c.742-987C>T - IntronicSNV - 6/21 1
16-28839753-C-G c.742-969C>G - IntronicSNV - 6/21 1
16-28839930-G-T c.742-792G>T - IntronicSNV - 6/21 2
16-28840381-A-G c.742-341A>G - IntronicSNV - 6/21 1
16-28841190-A-C c.845A>C p.Glu282Ala Missense 8/22 - 1
16-28841228-C-T c.883C>T p.Arg295Cys Missense 8/22 - 1
16-28841777-C-T c.1035-159C>T - IntronicSNV - 8/21 5
16-28842294-A-G c.1222A>G p.Met408Val Missense 10/22 - 1
16-28843025-C-T c.1322-501C>T - IntronicSNV - 10/21 1
16-28843118-A-G c.1322-408A>G - IntronicSNV - 10/21 1
16-28844068-T-A c.1589-70T>A - IntronicSNV - 12/21 4
16-28844068-T-C c.1589-70T>C - IntronicSNV - 12/21 4
16-28844068-T-G c.1589-70T>G - IntronicSNV - 12/21 4
16-28844284-A-G c.1659+76A>G - IntronicSNV - 13/21 1
16-28844365-G-A c.1660-15G>A - IntronicSNV - 13/21 1
16-28844396-CC-AA c.1676_1677delinsAA p.Ser559* Nonsense 14/22 - 1
16-28844567-G-T c.1847G>T p.Gly616Val Missense 14/22 - 1
16-28845251-G-A c.2026-135G>A - IntronicSNV - 15/21 3
16-28846840-T-A c.2686-30T>A - IntronicSNV - 20/21 1
16-28846840-T-G c.2686-30T>G - IntronicSNV - 20/21 1
16-28846866-G-A c.2686-4G>A - IntronicSNV - 20/21 4
16-28847149-G-C c.2895+70G>C - IntronicSNV - 21/21 2
16-28847246-T-C c.2896-8T>C - IntronicSNV - 21/21 17
16-28847458-C-G c.3100C>G p.Gln1034Glu Missense 22/22 - 1
16-28847567-G-T c.3209G>T p.Arg1070Leu Missense 22/22 - 1