Varaico: Literature-Extracted Genetic Variants

Gene:ABTB2
Variant:p.Y320C

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.Y320C
c.959A>G
Surrounding Variants
1 paper
NM_145804.3
p.E324*
c.970G>T
1 paper
NM_145804.3
p.E324K
c.970G>A
2 papers
NM_145804.3
p.G309G
c.927G>T
1 paper
NM_145804.3
p.G308S
c.922G>A
1 paper
NM_145804.3
p.C336*
c.1008C>A
1 paper
NM_145804.3
p.R357R
c.1071T>C
1 paper
NM_145804.3
p.D382N
c.1144G>A
1 paper
NM_145804.3
p.D382E
c.1146C>G
1 paper
NM_145804.3
p.D382E
c.1146C>A
1 paper
NM_145804.3
p.R392R
c.1176G>A
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