Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC2
Variant:p.S269A

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.S269A
c.805T>G
Surrounding Variants
1 paper
NM_014315.3
p.W270C
c.810G>C
1 paper
NM_014315.3
p.W270C
c.810G>T
1 paper
NM_014315.3
p.D279Y
c.835G>T
1 paper
NM_014315.3
p.R241K
c.722G>A
1 paper
NM_014315.3
p.R241T
c.722G>C
1 paper
NM_014315.3
p.R236T
c.707G>C
1 paper
NM_014315.3
p.R236I
c.707G>T
1 paper
NM_014315.3
p.G227R
c.679G>A
1 paper
NM_014315.3
p.G227R
c.679G>C
1 paper
NM_014315.3
p.A224T
c.670G>A
1 paper
NM_014315.3
p.H221R
c.662A>G
1 paper
NM_014315.3
p.P217R
c.650C>G
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