Varaico: Literature-Extracted Genetic Variants

Gene:BTBD7
Variant:p.S949*

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.S949*
c.2846C>G
Surrounding Variants
1 paper
NM_001002860.4
p.S949*
c.2846C>A
1 paper
NM_001002860.4
p.R936K
c.2807G>A
1 paper
NM_001002860.4
p.D934G
c.2801A>G
1 paper
NM_001002860.4
p.T933fs
c.2797_2798fs
1 paper
NM_001002860.4
p.H927fs
c.2779_2780fs
1 paper
NM_001002860.4
p.K926_H927insFs
c.2778_2779insA
1 paper
NM_001002860.4
p.R924Q
c.2771G>A
1 paper
NM_001002860.4
p.T997M
c.2990C>T
1 paper
NM_001002860.4
p.A892S
c.2674G>T
1 paper
NM_001002860.4
p.G1015R
c.3043G>C
1 paper
NM_001002860.4
p.G1015R
c.3043G>A
1 paper
NM_001002860.4
p.P1024L
c.3071C>T
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