Varaico: Literature-Extracted Genetic Variants

Gene:BTBD8
Variant:p.S727G

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.S727G
c.2179A>G
Surrounding Variants
1 paper
NM_001376131.1
p.D716H
c.2146G>C
1 paper
NM_001376131.1
p.N701D
c.2101A>G
1 paper
NM_001376131.1
p.G612S
c.1834G>A
2 papers
NM_001376131.1
p.S803fs
c.2407_2408fs
1 paper
NM_001376131.1
p.L856F
c.2566C>T
1 paper
NM_001376131.1
p.L991F
c.2971C>T
1 paper
NM_001376131.1
p.N1030H
c.3088A>C
1 paper
NM_001376131.1
p.I1031I
c.3093T>C
1 paper
NM_001376131.1
p.K1039R
c.3116A>G
1 paper
NM_001376131.1
p.T1054A
c.3160A>G
1 paper
NM_001376131.1
p.P1097S
c.3289C>T
1 paper
NM_001376131.1
p.N1098insFs
c.3293dupA
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