Varaico: Literature-Extracted Genetic Variants

Gene:ABTB3
Variant:p.V613I

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
2 papers
NM_001018072.2
p.V613I
c.1837G>A
Surrounding Variants
1 paper
NM_001018072.2
p.V613G
c.1838T>G
1 paper
NM_001018072.2
p.D616N
c.1846G>A
2 papers
NM_001018072.2
p.Q621K
c.1861C>A
1 paper
NM_001018072.2
p.A626T
c.1876G>A
1 paper
NM_001018072.2
p.V635A
c.1904T>C
1 paper
NM_001018072.2
p.H645P
c.1934A>C
1 paper
NM_001018072.2
p.T652M
c.1955C>T
1 paper
NM_001018072.2
p.P664T
c.1990C>A
1 paper
NM_001018072.2
p.Q603_G604Splc
c.1809+84C>G
1 paper
NM_001018072.2
p.M576T
c.1727T>C
1 paper
NM_001018072.2
p.A566V
c.1697C>T
7 papers
NM_001018072.2
p.A561V
c.1682C>T
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