Varaico: Literature-Extracted Genetic Variants

Gene:ABTB2
Variant:p.R1015R

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
2 papers
NM_145804.3
p.R1015R
c.3045C>T
Surrounding Variants
1 paper
NM_145804.3
p.R1015H
c.3044G>A
1 paper
NM_145804.3
p.Y993*
c.2979C>G
1 paper
NM_145804.3
p.Y993*
c.2979C>A
1 paper
NM_145804.3
p.I992L
c.2974A>C
1 paper
NM_145804.3
p.R989Q
c.2966G>A
1 paper
NM_145804.3
p.K977*
c.2929A>T
1 paper
NM_145804.3
p.C971Y
c.2912G>A
1 paper
NM_145804.3
p.L969M
c.2905C>A
1 paper
NM_145804.3
p.P965S
c.2893C>T
1 paper
NM_145804.3
p.A959G
c.2876C>G
1 paper
NM_145804.3
p.E940K
c.2818G>A
1 paper
NM_145804.3
p.T918A
c.2752A>G
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