Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC1
Variant:p.D3_S4del2

KLHDC1

25 papers

Pfam Domains

Kelch_KLHDC2_KLHL20_DRC7aa 15–266UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain
Kelch_KLHDC2_KLHL20_DRC7aa 166–317UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch domain containing 1

HGNC Alias Symbol

MST025

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_172193.3
p.D3_S4del2
c.7_11del6
Surrounding Variants
2 papers
NM_172193.3
p.S4_Q5delFs
c.12_13delTC
1 paper
NM_172193.3
p.M1_A2delFs
c.3_4delGG
1 paper
NM_172193.3
p.Q5fs
c.13_14fs
1 paper
NM_172193.3
p.V9_A10del2
c.25_29del6
1 paper
NM_172193.3
p.W28delFs
c.82delT
2 papers
NM_172193.3
p.W28fs
c.82_83fs
1 paper
NM_172193.3
p.G30S
c.88G>A
1 paper
NM_172193.3
p.G30fs
c.88_89fs
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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."