Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC2
Variant:p.R77I

KLHDC2

29 papers

Pfam Domains

Kelch_KLHDC2_KLHL20_DRC7aa 34–286UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch domain containing 2

HGNC Alias Symbol

HCLP-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014315.3
p.R77I
c.230G>T
Surrounding Variants
1 paper
NM_014315.3
p.W78*
c.233G>A
1 paper
NM_014315.3
p.W78*
c.234G>A
1 paper
NM_014315.3
p.S52delFs
c.154_155delAG
1 paper
NM_014315.3
p.E84K
c.250G>A
1 paper
NM_014315.3
p.L103L
c.309G>A
1 paper
NM_014315.3
p.G113R
c.337G>C
1 paper
NM_014315.3
p.G149A
c.446G>C
1 paper
NM_014315.3
p.K154_N155del2
c.460_464del6
1 paper
NM_014315.3
p.Y163C
c.488A>G
1 paper
NM_014315.3
p.A214V
c.641C>T
1 paper
NM_014315.3
p.P217R
c.650C>G
1 paper
NM_014315.3
p.H221R
c.662A>G
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