Varaico: Literature-Extracted Genetic Variants

Gene:KLHL18
Variant:p.L193P

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
Selected Variant
1 paper
NM_025010.5
p.L193P
c.578T>C
Surrounding Variants
1 paper
NM_025010.5
p.P180A
c.538C>G
1 paper
NM_025010.5
p.H164Y
c.490C>T
1 paper
NM_025010.5
p.Q200_V201Splc
c.600+73T>G
1 paper
NM_025010.5
p.D157N
c.469G>A
1 paper
NM_025010.5
p.E148A
c.443A>C
1 paper
NM_025010.5
p.R210_Y211insFs
c.630_631insC
1 paper
NM_025010.5
p.D212N
c.634G>A
1 paper
NM_025010.5
p.Y219D
c.655T>G
1 paper
NM_025010.5
p.L237P
c.710T>C
1 paper
NM_025010.5
p.D244G
c.731A>G
1 paper
NM_025010.5
p.A260E
c.779C>A
1 paper
NM_025010.5
p.L289H
c.866T>A
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