Varaico: Literature-Extracted Genetic Variants

Gene:KLHDC8B

KLHDC8B

30 papers

RefSeq Summary

This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin...

Pfam Domains

Kelch_KLHDC2_KLHL20_DRC7aa 119–336UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain

Gene Aliases

HGNC Name

kelch domain containing 8B

HGNC Alias Symbol

MGC35097

Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
1 paper
NM_173546.3
p.G5V
c.14G>T
1 paper
NM_173546.3
p.F14delFs
c.42delC
1 paper
NM_173546.3
p.P15L
c.44C>T
1 paper
NM_173546.3
p.M17fs
c.49_50fs
1 paper
NM_173546.3
p.G38fs
c.112_113fs
1 paper
NM_173546.3
p.E50Q
c.148G>C
1 paper
NM_173546.3
p.V81M
c.241G>A
1 paper
NM_173546.3
p.D88N
c.262G>A
1 paper
NM_173546.3
p.D126G
c.377A>G
1 paper
NM_173546.3
p.D126G
c.377A>G
1 paper
NM_173546.3
p.M128L
c.382A>C
1 paper
NM_173546.3
p.M128L
c.382A>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."