Varaico: Literature-Extracted Genetic Variants

Gene:BTBD8
Variant:p.I1669M

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.I1669M
c.5007A>G
Surrounding Variants
1 paper
NM_001376131.1
p.R1610W
c.4828C>T
1 paper
NM_001376131.1
p.R1245R
c.3735A>G
1 paper
NM_001376131.1
p.A1184T
c.3550G>A
1 paper
NM_001376131.1
p.G1172delFs
c.3516delA
1 paper
NM_001376131.1
p.A1115G
c.3344C>G
1 paper
NM_001376131.1
p.N1098insFs
c.3293dupA
1 paper
NM_001376131.1
p.P1097S
c.3289C>T
1 paper
NM_001376131.1
p.T1054A
c.3160A>G
1 paper
NM_001376131.1
p.K1039R
c.3116A>G
1 paper
NM_001376131.1
p.I1031I
c.3093T>C
1 paper
NM_001376131.1
p.N1030H
c.3088A>C
1 paper
NM_001376131.1
p.L991F
c.2971C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."