Varaico: Literature-Extracted Genetic Variants

Gene:ABTB3

ABTB3

86 papers

Pfam Domains

Histone_ABTBaa 98–239UCSCHistone domain in ABTB family protein
Ankaa 603–633UCSCAnkyrin repeat
Ank_2aa 635–718UCSCAnkyrin repeats (3 copies)
Ank_2aa 635–718UCSCAnkyrin repeats (3 copies)
BTBaa 914–1022UCSCBTB/POZ domain

Gene Aliases

HGNC Name

ankyrin repeat and BTB domain containing 3

HGNC Previous Symbol

BTBD11

Papers
RefSeq ID
Protein change
DNA change
1–12 of 100 variants
7 papers
NM_001018072.2
p.A561V
c.1682C>T
4 papers
NM_001018072.2
p.G265A
c.794G>C
3 papers
NM_001018072.2
p.G21R
c.61G>C
3 papers
NM_001018072.2
p.A327T
c.979G>A
3 papers
NM_001018072.2
p.G448S
c.1342G>A
2 papers
NM_001018072.2
p.G21S
c.61G>A
2 papers
NM_001018072.2
p.N33S
c.98A>G
2 papers
NM_001018072.2
p.P98L
c.293C>T
2 papers
NM_001018072.2
p.L453fs
c.1357_1358fs
2 papers
NM_001018072.2
p.V613I
c.1837G>A
2 papers
NM_001018072.2
p.Q621K
c.1861C>A
2 papers
NM_001018072.2
p.K1003T
c.3008A>C
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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."