Varaico: Literature-Extracted Genetic Variants

Gene:KLHL18

KLHL18

42 papers

Pfam Domains

BTBaa 28–135UCSCBTB/POZ domain
BACKaa 140–242UCSCBTB And C-terminal Kelch
Kelch_1aa 277–323UCSCKelch motif
Kelch_1aa 325–370UCSCKelch motif
Kelch_1aa 372–417UCSCKelch motif
Kelch_1aa 419–464UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 18

HGNC Alias Symbols

KIAA0795; FLJ13703

Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
2 papers
NM_025010.5
p.V55F
c.163G>T
1 paper
NM_025010.5
p.L12V
c.34C>G
1 paper
NM_025010.5
p.G24S
c.70G>A
1 paper
NM_025010.5
p.G35D
c.104G>A
1 paper
NM_025010.5
p.G45R
c.133G>A
1 paper
NM_025010.5
p.R53Q
c.158G>A
1 paper
NM_025010.5
p.R132*
c.394C>T
1 paper
NM_025010.5
p.E148A
c.443A>C
1 paper
NM_025010.5
p.D157N
c.469G>A
1 paper
NM_025010.5
p.H164Y
c.490C>T
1 paper
NM_025010.5
p.P180A
c.538C>G
1 paper
NM_025010.5
p.L193P
c.578T>C
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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."