Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC7A

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
1–12 of 111 variants
10 papers
NM_152375.3
p.T351P
c.1051A>C
9 papers
NM_152375.3
p.P141R
c.422C>G
9 papers
NM_152375.3
p.R160S
c.478C>A
9 papers
NM_152375.3
p.H273N
c.817C>A
5 papers
NM_152375.3
p.P155T
c.463C>A
4 papers
NM_152375.3
p.G49R
c.145G>C
3 papers
NM_152375.3
p.V21L
c.61G>C
3 papers
NM_152375.3
p.V21L
c.61G>T
3 papers
NM_152375.3
p.R227C
c.679C>T
3 papers
NM_152375.3
p.Q252*
c.754C>T
3 papers
NM_152375.3
p.E635K
c.1903G>A
3 papers
NM_152375.3
p.K748E
c.2242A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."