Varaico: Literature-Extracted Genetic Variants

Gene:KLHL2
Variant:p.Q127H

KLHL2

34 papers

Pfam Domains

BTBaa 46–153UCSCBTB/POZ domain
BTBaa 46–153UCSCBTB/POZ domain
BACKaa 158–260UCSCBTB And C-terminal Kelch
BACKaa 158–260UCSCBTB And C-terminal Kelch
Kelch_1aa 303–340UCSCKelch motif
Kelch_1aa 342–387UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 2

HGNC Alias Symbol

MAV

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007246.4
p.Q127H
c.381G>C
Surrounding Variants
1 paper
NM_007246.4
p.S90G
c.268A>G
4 papers
NM_007246.4
p.E88G
c.263A>G
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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."