Varaico: Literature-Extracted Genetic Variants

Gene:BTBD7
Variant:p.A1042V

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.A1042V
c.3125C>T
Surrounding Variants
1 paper
NM_001002860.4
p.E1045*
c.3133G>T
1 paper
NM_001002860.4
p.A1059V
c.3176C>T
1 paper
NM_001002860.4
p.P1024L
c.3071C>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.E1084K
c.3250G>A
1 paper
NM_001002860.4
p.S1087A
c.3259T>G
1 paper
NM_001002860.4
p.T997M
c.2990C>T
1 paper
NM_001002860.4
p.A1092V
c.3275C>T
1 paper
NM_001002860.4
p.A1131D
c.3392C>A
1 paper
NM_001002860.4
p.L1132R
c.3395T>G
1 paper
NM_001002860.4
p.S949*
c.2846C>G
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