Varaico: Literature-Extracted Genetic Variants

Gene:ABTB2

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
1–12 of 116 variants
4 papers
NM_145804.3
p.D793N
c.2377G>A
3 papers
NM_145804.3
p.H250Q
c.750C>G
3 papers
NM_145804.3
p.H250Q
c.750C>A
2 papers
NM_145804.3
p.T16S
c.46A>T
2 papers
NM_145804.3
p.A46T
c.136G>A
2 papers
NM_145804.3
p.G309G
c.927G>T
2 papers
NM_145804.3
p.E508K
c.1522G>A
2 papers
NM_145804.3
p.A616A
c.1848G>A
2 papers
NM_145804.3
p.R1015R
c.3045C>T
1 paper
NM_145804.3
p.A23fs
c.67_68fs
1 paper
NM_145804.3
p.A23delFs
c.67delC
1 paper
NM_145804.3
p.S26S
c.78G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."