Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC7A
Variant:p.Q515R

KLHDC7A

93 papers

Pfam Domains

Kelch_1aa 530–576UCSCKelch motif
Kelch_1aa 578–619UCSCKelch motif

Gene Aliases

HGNC Name

kelch domain containing 7A

HGNC Alias Symbol

FLJ38753

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152375.3
p.Q515R
c.1544A>G
Surrounding Variants
1 paper
NM_152375.3
p.E514Q
c.1540G>C
2 papers
NM_152375.3
p.M524I
c.1572G>A
2 papers
NM_152375.3
p.M524I
c.1572G>C
2 papers
NM_152375.3
p.M524I
c.1572G>T
2 papers
NM_152375.3
p.E527K
c.1579G>A
1 paper
NM_152375.3
p.Y493N
c.1477T>A
1 paper
NM_152375.3
p.R491H
c.1472G>A
1 paper
NM_152375.3
p.R489Q
c.1466G>A
1 paper
NM_152375.3
p.L488F
c.1462C>T
1 paper
NM_152375.3
p.L484M
c.1450C>A
1 paper
NM_152375.3
p.G547S
c.1639G>A
1 paper
NM_152375.3
p.Q549H
c.1647G>C
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