Varaico: Literature-Extracted Genetic Variants

Gene:BTBD7
Variant:p.P518T

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.P518T
c.1552C>A
Surrounding Variants
2 papers
NM_001002860.4
p.D505del1
c.1513_1515delGTC
1 paper
NM_001002860.4
p.R502Q
c.1505G>A
1 paper
NM_001002860.4
p.G489D
c.1466G>A
1 paper
NM_001002860.4
p.S488N
c.1463G>A
1 paper
NM_001002860.4
p.G556E
c.1667G>A
1 paper
NM_001002860.4
p.D588E
c.1764T>G
1 paper
NM_001002860.4
p.D588E
c.1764T>A
2 papers
NM_001002860.4
p.R599C
c.1795C>T
1 paper
NM_001002860.4
p.L600*
c.1799T>A
1 paper
NM_001002860.4
p.L600delins
c.1799_1800delinsAC
1 paper
NM_001002860.4
p.L600delins
c.1799_1800delinsAA
1 paper
NM_001002860.4
p.M602V
c.1804A>G
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