Varaico: Literature-Extracted Genetic Variants

Gene:BTBD8
Variant:p.K126N

BTBD8

57 papers

Pfam Domains

BTBaa 48–150UCSCBTB/POZ domain
BTBaa 198–303UCSCBTB/POZ domain
BACK_BTBD8aa 305–425UCSCBTBD8, BACK domain
BTBD8_Caa 1749–1792UCSCBTB/POZ domain-containing protein 8, C-terminal

Gene Aliases

HGNC Name

BTB domain containing 8

HGNC Previous Symbol

KIAA1107

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001376131.1
p.K126N
c.378A>T
Surrounding Variants
1 paper
NM_001376131.1
p.K126N
c.378A>C
1 paper
NM_001376131.1
p.E131K
c.391G>A
3 papers
NM_001376131.1
p.K136R
c.407A>G
1 paper
NM_001376131.1
p.F151fs
c.451_452fs
1 paper
NM_001376131.1
p.D159N
c.475G>A
1 paper
NM_001376131.1
p.C160F
c.479G>T
1 paper
NM_001376131.1
p.I167N
c.500T>A
1 paper
NM_001376131.1
p.D182Splc
c.545-1G>A
1 paper
NM_001376131.1
p.E191delFs
c.572delA
1 paper
NM_001376131.1
p.D195N
c.583G>A
1 paper
NM_001376131.1
p.D207N
c.619G>A
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