Varaico: Literature-Extracted Genetic Variants

Gene:ABTB3
Variant:p.H338Y

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.H338Y
c.1012C>T
Surrounding Variants
1 paper
NM_001018072.2
p.H338Q
c.1014T>A
1 paper
NM_001018072.2
p.H338Q
c.1014T>G
1 paper
NM_001018072.2
p.H335P
c.1004A>C
1 paper
NM_001018072.2
p.A329T
c.985G>A
3 papers
NM_001018072.2
p.A327T
c.979G>A
1 paper
NM_001018072.2
p.W362*
c.1085G>A
1 paper
NM_001018072.2
p.P367H
c.1100C>A
1 paper
NM_001018072.2
p.K375_N376delFs
c.1125_1128del4
1 paper
NM_001018072.2
p.A296A
c.888G>C
1 paper
NM_001018072.2
p.G292fs
c.874_875fs
1 paper
NM_001018072.2
p.A290_P291insFs
c.870_871insC
4 papers
NM_001018072.2
p.G265A
c.794G>C
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