Varaico: Literature-Extracted Genetic Variants

Gene:BTBD6

BTBD6

16 papers

Pfam Domains

BTBaa 127–236UCSCBTB/POZ domain
BACKaa 241–350UCSCBTB And C-terminal Kelch
PHRaa 392–537UCSCPHR domain

Gene Aliases

HGNC Name

BTB domain containing 6

HGNC Alias Symbol

BDPL

Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
3 papers
NM_001387567.1
p.G79G
c.237C>T
3 papers
NM_001387567.1
p.G161G
c.483C>T
1 paper
NM_001387567.1
p.P4P
c.12C>T
1 paper
NM_001387567.1
p.R34W
c.100A>T
1 paper
NM_001387567.1
p.A43S
c.127G>T
1 paper
NM_001387567.1
p.N73I
c.218A>T
1 paper
NM_001387567.1
p.S86S
c.258C>T
1 paper
NM_001387567.1
p.N132N
c.396C>T
1 paper
NM_001387567.1
p.E133E
c.399G>A
1 paper
NM_001387567.1
p.A147delFs
c.439delG
1 paper
NM_001387567.1
p.G171*
c.511G>T
1 paper
NM_001387567.1
p.V185insFs
c.554dupT
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