Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4

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
1–12 of 730 variants
2 papers
NM_018095.6
p.I50T
c.149T>C
2 papers
NM_018095.6
p.A81V
c.242C>T
2 papers
NM_018095.6
p.A97V
c.290C>T
2 papers
NM_018095.6
p.N99I
c.296A>T
2 papers
NM_018095.6
p.Y120H
c.358T>C
2 papers
NM_018095.6
p.L178F
c.532C>T
2 papers
NM_018095.6
p.T188I
c.563C>T
2 papers
NM_018095.6
p.A224T
c.670G>A
2 papers
NM_018095.6
p.A296T
c.886G>A
2 papers
NM_018095.6
p.C297R
c.889T>C
2 papers
NM_018095.6
p.S309F
c.926C>T
2 papers
NM_018095.6
p.I310F
c.928A>T
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