Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.I416T

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.I416T
c.1247T>C
Surrounding Variants
1 paper
NM_018095.6
p.I416V
c.1246A>G
1 paper
NM_018095.6
p.Q417*
c.1249C>T
1 paper
NM_018095.6
p.L415P
c.1244T>C
1 paper
NM_018095.6
p.Q417R
c.1250A>G
1 paper
NM_018095.6
p.L415F
c.1243C>T
1 paper
NM_018095.6
p.C418R
c.1252T>C
1 paper
NM_018095.6
p.C418Y
c.1253G>A
1 paper
NM_018095.6
p.R414Q
c.1241G>A
1 paper
NM_018095.6
p.R414*
c.1240C>T
1 paper
NM_018095.6
p.S413F
c.1238C>T
1 paper
NM_018095.6
p.S413P
c.1237T>C
1 paper
NM_018095.6
p.D420N
c.1258G>A
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