Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC4
Variant:p.D417E

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
Selected Variant
2 papers
NM_017566.4
p.D417E
c.1251C>G
Surrounding Variants
2 papers
NM_017566.4
p.D417E
c.1251C>A
1 paper
NM_017566.4
p.A422A
c.1266C>T
2 papers
NM_017566.4
p.A408V
c.1223C>T
1 paper
NM_017566.4
p.S433C
c.1298C>G
1 paper
NM_017566.4
p.G449R
c.1345G>C
1 paper
NM_017566.4
p.A376D
c.1127C>A
1 paper
NM_017566.4
p.R357H
c.1070G>A
1 paper
NM_017566.4
p.D481Y
c.1441G>T
2 papers
NM_017566.4
p.D481A
c.1442A>C
1 paper
NM_017566.4
p.P350H
c.1049C>A
1 paper
NM_017566.4
p.V500I
c.1498G>A
1 paper
NM_017566.4
p.G502A
c.1505G>C
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