Varaico: Literature-Extracted Genetic Variants

Gene:BTBD7
Variant:p.S847*

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.S847*
c.2540C>G
Surrounding Variants
1 paper
NM_001002860.4
p.S847*
c.2540C>A
3 papers
NM_001002860.4
p.A856del1
c.2566_2568delTGC
1 paper
NM_001002860.4
p.E858*
c.2572G>T
2 papers
NM_001002860.4
p.T806R
c.2417C>G
1 paper
NM_001002860.4
p.N774Y
c.2320A>T
1 paper
NM_001002860.4
p.P760L
c.2279C>T
1 paper
NM_001002860.4
p.E742K
c.2224G>A
1 paper
NM_001002860.4
p.P739L
c.2216C>T
1 paper
NM_001002860.4
p.V735I
c.2203G>A
1 paper
NM_001002860.4
p.G719W
c.2155G>T
1 paper
NM_001002860.4
p.P865fs
c.2593_2594fs
1 paper
NM_001002860.4
p.P865delFs
c.2594delG
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