Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC4

KLHDC4

41 papers

Pfam Domains

Kelch_KLHDC2_KLHL20_DRC7aa 69–314UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain
Kelch_KLHDC2_KLHL20_DRC7aa 174–361UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch domain containing 4

HGNC Alias Symbol

DKFZp434G0522

Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
4 papers
NM_017566.4
p.R28H
c.83G>A
2 papers
NM_017566.4
p.R177W
c.529C>T
2 papers
NM_017566.4
p.A408V
c.1223C>T
2 papers
NM_017566.4
p.D417E
c.1251C>G
2 papers
NM_017566.4
p.D417E
c.1251C>A
2 papers
NM_017566.4
p.D481A
c.1442A>C
1 paper
NM_017566.4
p.K3T
c.8A>C
1 paper
NM_017566.4
p.G5S
c.13G>A
1 paper
NM_017566.4
p.K7Q
c.19A>C
1 paper
NM_017566.4
p.K10R
c.29A>G
1 paper
NM_017566.4
p.K24N
c.72G>T
1 paper
NM_017566.4
p.T53S
c.157A>T
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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."