Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.H173Y

KBTBD4

37 papers

Pfam Domains

BTBaa 51–157UCSCBTB/POZ domain
BACKaa 163–250UCSCBTB And C-terminal Kelch
Kelch_2aa 290–331UCSCKelch motif

Gene Aliases

HGNC Name

kelch repeat and BTB domain containing 4

HGNC Previous Symbol

BKLHD4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018095.6
p.H173Y
c.517C>T
Surrounding Variants
1 paper
NM_018095.6
p.R172W
c.514C>T
1 paper
NM_018095.6
p.S174N
c.521G>A
1 paper
NM_018095.6
p.D171G
c.512A>G
1 paper
NM_018095.6
p.D175N
c.523G>A
1 paper
NM_018095.6
p.D171N
c.511G>A
1 paper
NM_018095.6
p.D175G
c.524A>G
1 paper
NM_018095.6
p.A170V
c.509C>T
1 paper
NM_018095.6
p.A170T
c.508G>A
1 paper
NM_018095.6
p.P176S
c.526C>T
1 paper
NM_018095.6
p.L169P
c.506T>C
1 paper
NM_018095.6
p.E177K
c.529G>A
1 paper
NM_018095.6
p.W168*
c.504G>A
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