Varaico: Literature-Extracted Genetic Variants

Gene:ABTB2
Variant:p.S472R

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.S472R
c.1416T>G
Surrounding Variants
1 paper
NM_145804.3
p.S472R
c.1416T>A
1 paper
NM_145804.3
p.S472R
c.1414A>C
1 paper
NM_145804.3
p.R475W
c.1423C>T
1 paper
NM_145804.3
p.K466Q
c.1396A>C
1 paper
NM_145804.3
p.R480Q
c.1439G>A
1 paper
NM_145804.3
p.T500M
c.1499C>T
2 papers
NM_145804.3
p.E508K
c.1522G>A
1 paper
NM_145804.3
p.M518V
c.1552A>G
1 paper
NM_145804.3
p.K466Q
c.1396A>C
1 paper
NM_145804.3
p.R452W
c.1354C>T
1 paper
NM_145804.3
p.L420V
c.1258C>G
1 paper
NM_145804.3
p.F417I
c.1249T>A
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