Varaico: Literature-Extracted Genetic Variants

Gene:ABTB3
Variant:p.K131N

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.K131N
c.393G>T
Surrounding Variants
1 paper
NM_001018072.2
p.K131N
c.393G>C
1 paper
NM_001018072.2
p.L140L
c.420G>T
1 paper
NM_001018072.2
p.V120fs
c.358_359fs
2 papers
NM_001018072.2
p.P98L
c.293C>T
1 paper
NM_001018072.2
p.R89P
c.266G>C
1 paper
NM_001018072.2
p.A185T
c.553G>A
1 paper
NM_001018072.2
p.V213M
c.637G>A
1 paper
NM_001018072.2
p.S50G
c.148A>G
1 paper
NM_001018072.2
p.P43A
c.127C>G
2 papers
NM_001018072.2
p.N33S
c.98A>G
1 paper
NM_001018072.2
p.G23R
c.67G>C
1 paper
NM_001018072.2
p.G21V
c.62G>T
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