Varaico: Literature-Extracted Genetic Variants

Gene:ABTB3
Variant:p.H446Q

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
Selected Variant
1 paper
NM_001018072.2
p.H446Q
c.1338C>G
Surrounding Variants
1 paper
NM_001018072.2
p.H446Q
c.1338C>A
3 papers
NM_001018072.2
p.G448S
c.1342G>A
1 paper
NM_001018072.2
p.L453M
c.1357C>A
2 papers
NM_001018072.2
p.L453fs
c.1357_1358fs
1 paper
NM_001018072.2
p.R434H
c.1301G>A
1 paper
NM_001018072.2
p.R434C
c.1300C>T
1 paper
NM_001018072.2
p.S433F
c.1298C>T
1 paper
NM_001018072.2
p.W481*
c.1442G>A
1 paper
NM_001018072.2
p.W481*
c.1443G>A
1 paper
NM_001018072.2
p.P488S
c.1462C>T
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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."