Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC9
Variant:p.L42R

KLHDC9

28 papers

Pfam Domains

Kelch_KLHDC2_KLHL20_DRC7aa 13–150UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch domain containing 9

HGNC Alias Symbol

KARCA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152366.5
p.L42R
c.125T>G
Surrounding Variants
1 paper
NM_152366.5
p.E35K
c.103G>A
1 paper
NM_152366.5
p.S55R
c.163A>C
1 paper
NM_152366.5
p.S55R
c.165C>A
1 paper
NM_152366.5
p.S55R
c.165C>G
1 paper
NM_152366.5
p.V20M
c.58G>A
1 paper
NM_152366.5
p.M1K
c.2T>A
1 paper
NM_152366.5
p.W120*
c.359G>A
1 paper
NM_152366.5
p.W120*
c.360G>A
1 paper
NM_152366.5
p.P128H
c.383C>A
1 paper
NM_152366.5
p.R150L
c.449G>T
1 paper
NM_152366.5
p.R159H
c.476G>A
1 paper
NM_152366.5
p.L166*
c.497T>A
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