Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC3
Variant:p.L59R

KLHDC3

27 papers

RefSeq Summary

The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. I...

Pfam Domains

Kelch_1aa 13–63UCSCKelch motif
Kelch_KLHDC2_KLHL20_DRC7aa 79–308UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch domain containing 3

HGNC Alias Symbols

PEAS; hPeas; dJ20C7.3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_057161.4
p.L59R
c.176T>G
Surrounding Variants
1 paper
NM_057161.4
p.R67C
c.199C>T
1 paper
NM_057161.4
p.M76V
c.226A>G
1 paper
NM_057161.4
p.V83I
c.247G>A
1 paper
NM_057161.4
p.T98delFs
c.292delA
1 paper
NM_057161.4
p.T98fs
c.292_293fs
1 paper
NM_057161.4
p.F49C
c.146T>G
1 paper
NM_057161.4
p.F49V
c.145T>G
1 paper
NM_057161.4
p.Q43R
c.128A>G
1 paper
NM_057161.4
p.R42H
c.125G>A
1 paper
NM_057161.4
p.A21D
c.62C>A
1 paper
NM_057161.4
p.N16D
c.46A>G
1 paper
NM_057161.4
p.P12L
c.35C>T
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