Varaico: Literature-Extracted Genetic Variants

Gene:BTBD7
Variant:p.Y138*

BTBD7

71 papers

Pfam Domains

BTBaa 132–238UCSCBTB/POZ domain
BTBaa 266–397UCSCBTB/POZ domain
BACKaa 403–488UCSCBTB And C-terminal Kelch

Gene Aliases

HGNC Name

BTB domain containing 7

HGNC Alias Symbols

FLJ10648; FUP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001002860.4
p.Y138*
c.414C>G
Surrounding Variants
1 paper
NM_001002860.4
p.Y138*
c.414C>A
1 paper
NM_001002860.4
p.Y138delFs
c.414delG
1 paper
NM_001002860.4
p.D134H
c.400G>C
1 paper
NM_001002860.4
p.R157C
c.469C>T
2 papers
NM_001002860.4
p.T169delFs
c.505delT
1 paper
NM_001002860.4
p.E180D
c.540G>T
1 paper
NM_001002860.4
p.E180D
c.540G>C
1 paper
NM_001002860.4
p.N186S
c.557A>G
1 paper
NM_001002860.4
p.K84N
c.252G>T
1 paper
NM_001002860.4
p.K84N
c.252G>C
1 paper
NM_001002860.4
p.R78K
c.233G>A
1 paper
NM_001002860.4
p.R73H
c.218G>A
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."