Varaico: Literature-Extracted Genetic Variants

Gene:BTBD3

BTBD3

31 papers

Pfam Domains

BTBaa 111–220UCSCBTB/POZ domain
BACKaa 225–332UCSCBTB And C-terminal Kelch
PHRaa 376–521UCSCPHR domain

Gene Aliases

HGNC Name

BTB domain containing 3

HGNC Alias Symbols

KIAA0952; dJ742J24.1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
1 paper
NM_014962.4
p.T13A
c.37A>G
1 paper
NM_014962.4
p.M17I
c.51G>T
1 paper
NM_014962.4
p.N24N
c.72C>T
1 paper
NM_014962.4
p.K27M
c.80A>T
1 paper
NM_014962.4
p.P46L
c.137C>T
1 paper
NM_014962.4
p.K59fs
c.175_176fs
1 paper
NM_014962.4
p.K59N
c.177G>C
1 paper
NM_014962.4
p.K59N
c.177G>T
1 paper
NM_014962.4
p.R69S
c.205C>A
1 paper
NM_014962.4
p.R69C
c.205C>T
1 paper
NM_014962.4
p.V148M
c.442G>A
1 paper
NM_014962.4
p.M152I
c.456G>A
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