Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.Y431C

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.Y431C
c.1292A>G
Surrounding Variants
1 paper
NM_018095.6
p.V432A
c.1295T>C
1 paper
NM_018095.6
p.K429E
c.1285A>G
1 paper
NM_018095.6
p.V428A
c.1283T>C
1 paper
NM_018095.6
p.F435S
c.1304T>C
1 paper
NM_018095.6
p.H427R
c.1280A>G
1 paper
NM_018095.6
p.H427Y
c.1279C>T
1 paper
NM_018095.6
p.A436T
c.1306G>A
1 paper
NM_018095.6
p.C426Y
c.1277G>A
1 paper
NM_018095.6
p.A436V
c.1307C>T
1 paper
NM_018095.6
p.C426R
c.1276T>C
1 paper
NM_018095.6
p.K425E
c.1273A>G
1 paper
NM_018095.6
p.R438C
c.1312C>T
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