Varaico: Literature-Extracted Genetic Variants

Gene:ABTB2
Variant:p.D543G

ABTB2

76 papers

Pfam Domains

Histone_ABTBaa 98–233UCSCHistone domain in ABTB family protein
Ankaa 521–552UCSCAnkyrin repeat
Ank_2aa 559–637UCSCAnkyrin repeats (3 copies)
BTBaa 836–947UCSCBTB/POZ domain

Gene Aliases

HGNC Name

ankyrin repeat and BTB domain containing 2

HGNC Alias Symbols

DKFZP586C1619; BTBD22; ABTB2A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145804.3
p.D543G
c.1628A>G
Surrounding Variants
1 paper
NM_145804.3
p.G545E
c.1634G>A
1 paper
NM_145804.3
p.Q539R
c.1616A>G
1 paper
NM_145804.3
p.Q551R
c.1652A>G
1 paper
NM_145804.3
p.A529T
c.1585G>A
1 paper
NM_145804.3
p.Y528F
c.1583A>T
1 paper
NM_145804.3
p.G579G
c.1737A>T
1 paper
NM_145804.3
p.S615C
c.1844C>G
1 paper
NM_145804.3
p.A616V
c.1847C>T
2 papers
NM_145804.3
p.A616A
c.1848G>A
1 paper
NM_145804.3
p.M518V
c.1552A>G
2 papers
NM_145804.3
p.E508K
c.1522G>A
1 paper
NM_145804.3
p.T500M
c.1499C>T
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