Varaico: Literature-Extracted Genetic Variants

Gene:BTBD8
Variant:p.C21R

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
2 papers
NM_001376131.1
p.C21R
c.61T>C
Surrounding Variants
1 paper
NM_001376131.1
p.P30L
c.89C>T
1 paper
NM_001376131.1
p.E6K
c.16G>A
3 papers
NM_001376131.1
p.V60I
c.178G>A
1 paper
NM_001376131.1
p.L77delFs
c.230delT
1 paper
NM_001376131.1
p.L77fs
c.229_230fs
1 paper
NM_001376131.1
p.P81R
c.242C>G
1 paper
NM_001376131.1
p.F85L
c.253T>C
1 paper
NM_001376131.1
p.F85L
c.255T>A
1 paper
NM_001376131.1
p.F85L
c.255T>G
1 paper
NM_001376131.1
p.N93H
c.277A>C
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