Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC1
Variant:p.Y82*

KLHDC1

25 papers

Pfam Domains

Kelch_KLHDC2_KLHL20_DRC7aa 15–266UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain
Kelch_KLHDC2_KLHL20_DRC7aa 166–317UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch domain containing 1

HGNC Alias Symbol

MST025

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_172193.3
p.Y82*
c.246C>G
Surrounding Variants
1 paper
NM_172193.3
p.Y82*
c.246C>A
1 paper
NM_172193.3
p.Y97C
c.290A>G
1 paper
NM_172193.3
p.R102P
c.305G>C
1 paper
NM_172193.3
p.Y108C
c.323A>G
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