Varaico: Literature-Extracted Genetic Variants

Gene:ABTB2
Variant:p.A23delFs

ABTB2

76 papers

Pfam Domains

Histone_ABTBaa 98–233UCSCHistone domain in ABTB family protein
Ankaa 521–552UCSCAnkyrin repeat
Ank_2aa 559–637UCSCAnkyrin repeats (3 copies)
BTBaa 836–947UCSCBTB/POZ domain

Gene Aliases

HGNC Name

ankyrin repeat and BTB domain containing 2

HGNC Alias Symbols

DKFZP586C1619; BTBD22; ABTB2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145804.3
p.A23delFs
c.67delC
Surrounding Variants
1 paper
NM_145804.3
p.A23fs
c.67_68fs
1 paper
NM_145804.3
p.S26S
c.78G>A
2 papers
NM_145804.3
p.T16S
c.46A>T
1 paper
NM_145804.3
p.A46S
c.136G>T
2 papers
NM_145804.3
p.A46T
c.136G>A
1 paper
NM_145804.3
p.V104L
c.310G>T
1 paper
NM_145804.3
p.V104L
c.310G>C
1 paper
NM_145804.3
p.E123Q
c.367G>C
1 paper
NM_145804.3
p.V125L
c.373G>T
1 paper
NM_145804.3
p.V125L
c.373G>C
1 paper
NM_145804.3
p.C153R
c.457T>C
1 paper
NM_145804.3
p.C153S
c.457T>A
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