Varaico: Literature-Extracted Genetic Variants

Gene:KLHL28
Variant:p.V430I

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
Selected Variant
2 papers
NM_017658.5
p.V430I
c.1288G>A
Surrounding Variants
1 paper
NM_017658.5
p.A444T
c.1330G>A
1 paper
NM_017658.5
p.Q401P
c.1202A>C
3 papers
NM_017658.5
p.R321L
c.962G>T
1 paper
NM_017658.5
p.S310C
c.929C>G
1 paper
NM_017658.5
p.R451H
c.1352G>A
1 paper
NM_017658.5
p.G486V
c.1457G>T
1 paper
NM_017658.5
p.G518Splc
c.1553-2A>G
1 paper
NM_017658.5
p.N541K
c.1623T>G
1 paper
NM_017658.5
p.N541K
c.1623T>A
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