Varaico: Literature-Extracted Genetic Variants

Gene:BTBD7
Variant:p.S232P

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.S232P
c.694T>C
Surrounding Variants
1 paper
NM_001002860.4
p.E226Q
c.676G>C
1 paper
NM_001002860.4
p.R238H
c.713G>A
1 paper
NM_001002860.4
p.D256D
c.768C>T
1 paper
NM_001002860.4
p.L259L
c.777G>A
1 paper
NM_001002860.4
p.N186S
c.557A>G
1 paper
NM_001002860.4
p.V280I
c.838G>A
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.R284Q
c.851G>A
1 paper
NM_001002860.4
p.P286delFs
c.856delG
1 paper
NM_001002860.4
p.R289fs
c.865_866fs
1 paper
NM_001002860.4
p.L291F
c.873A>T
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