Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.A515T

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.A515T
c.1543G>A
Surrounding Variants
1 paper
NM_018095.6
p.A515V
c.1544C>T
1 paper
NM_018095.6
p.A515D
c.1544C>A
1 paper
NM_018095.6
p.S514L
c.1541C>T
1 paper
NM_018095.6
p.S514P
c.1540T>C
1 paper
NM_018095.6
p.V516I
c.1546G>A
1 paper
NM_018095.6
p.V516A
c.1547T>C
1 paper
NM_018095.6
p.T513I
c.1538C>T
1 paper
NM_018095.6
p.T513A
c.1537A>G
1 paper
NM_018095.6
p.A512V
c.1535C>T
1 paper
NM_018095.6
p.V518I
c.1552G>A
1 paper
NM_018095.6
p.A512T
c.1534G>A
1 paper
NM_018095.6
p.V518A
c.1553T>C
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