Varaico: Literature-Extracted Genetic Variants

Gene:KLHL28

KLHL28

26 papers

Pfam Domains

BTBaa 25–132UCSCBTB/POZ domain
BACKaa 137–239UCSCBTB And C-terminal Kelch
Kelch_1aa 320–373UCSCKelch motif
Kelch_1aa 375–420UCSCKelch motif
Kelch_1aa 422–466UCSCKelch motif
Kelch_1aa 468–513UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 28

HGNC Previous Symbol

BTBD5

Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
3 papers
NM_017658.5
p.R321L
c.962G>T
2 papers
NM_017658.5
p.V430I
c.1288G>A
1 paper
NM_017658.5
p.T4A
c.10A>G
1 paper
NM_017658.5
p.L13F
c.39A>T
1 paper
NM_017658.5
p.L13F
c.39A>C
1 paper
NM_017658.5
p.L34_C35ins3
c.102_103ins9
1 paper
NM_017658.5
p.E77Q
c.229G>C
1 paper
NM_017658.5
p.Q102_D103ins9
c.304_308ins27
1 paper
NM_017658.5
p.G148D
c.443G>A
1 paper
NM_017658.5
p.Y153C
c.458A>G
1 paper
NM_017658.5
p.A155P
c.463G>C
1 paper
NM_017658.5
p.N163I
c.488A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."