Varaico: Literature-Extracted Genetic Variants

Gene:BTBD7

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
1–12 of 97 variants
3 papers
NM_001002860.4
p.A856del1
c.2566_2568delTGC
2 papers
NM_001002860.4
p.T169delFs
c.505delT
2 papers
NM_001002860.4
p.K361N
c.1083G>T
2 papers
NM_001002860.4
p.K361N
c.1083G>C
2 papers
NM_001002860.4
p.D505del1
c.1513_1515delGTC
2 papers
NM_001002860.4
p.R599C
c.1795C>T
2 papers
NM_001002860.4
p.T806R
c.2417C>G
1 paper
NM_001002860.4
p.C12S
c.34T>A
1 paper
NM_001002860.4
p.C12S
c.35G>C
1 paper
NM_001002860.4
p.E51K
c.151G>A
1 paper
NM_001002860.4
p.K58fs
c.172_173fs
1 paper
NM_001002860.4
p.K58delFs
c.174delC
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