TBL2 transducin beta like 2

Canonical transcript: NM_012453

24 unique variant annotations were identified in 151 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
7-72982874-C-T c.*1963G>A - IntergenicSNV 7/7 - 149
7-72983310-A-T c.*1527T>A - 3-UTRSNV 7/7 - 8
7-72984780-T-C c.*57A>G - 3-UTRSNV 7/7 - 7
7-72985148-C-A c.1033G>T p.Val345Phe Missense 7/7 - 2
7-72985148-C-T c.1033G>A p.Val345Ile Missense 7/7 - 3
7-72987284-A-C c.615T>G p.Thr205Thr Synonymous 5/7 - 1
7-72987284-A-G c.615T>C p.Thr205Thr Synonymous 5/7 - 1
7-72987284-A-T c.615T>A p.Thr205Thr Synonymous 5/7 - 1
7-72987354-C-T c.599-54G>A - IntronicSNV - 4/6 31
7-72987758-A-C c.490T>G p.Phe164Val Missense 4/7 - 1
7-72988069-C-T c.446+199G>A - IntronicSNV - 3/6 4
7-72989390-A-G c.131-547T>C - IntronicSNV - 1/6 26
7-72991592-T-A c.130+1158A>T - IntronicSNV - 1/6 2
7-72991592-T-C c.130+1158A>G - IntronicSNV - 1/6 2
7-72991593-G-A c.130+1157C>T - IntronicSNV - 1/6 3
7-72991593-G-C c.130+1157C>G - IntronicSNV - 1/6 3
7-72991704-G-A c.130+1046C>T - IntronicSNV - 1/6 3
7-72991704-G-C c.130+1046C>G - IntronicSNV - 1/6 3
7-72992350-C-T c.130+400G>A - IntronicSNV - 1/6 4
7-72992820-G-A c.60C>T p.Ala20Ala Synonymous 1/7 - 1
7-72992820-G-C c.60C>G p.Ala20Ala Synonymous 1/7 - 1
7-72992820-G-T c.60C>A p.Ala20Ala Synonymous 1/7 - 1
7-72992858-C-G c.22G>C p.Glu8Gln Missense 1/7 - 4
7-72992858-C-T c.22G>A p.Glu8Lys Missense 1/7 - 4