Varaico: Literature-Extracted Genetic Variants

Gene:KLHL22
Variant:p.L164W

KLHL22

49 papers

Pfam Domains

BTBaa 40–147UCSCBTB/POZ domain
BACKaa 152–259UCSCBTB And C-terminal Kelch
Kelch_KLHDC2_KLHL20_DRC7aa 296–479UCSCKLHDC2/KLHL20/DRC7 Kelch-repeats domain
Kelch_1aa 482–531UCSCKelch motif
Kelch_1aa 535–579UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 22

HGNC Alias Symbols

FLJ14360; KELCHL

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032775.4
p.L164W
c.491T>G
Surrounding Variants
1 paper
NM_032775.4
p.E149K
c.445G>A
1 paper
NM_032775.4
p.R189C
c.565C>T
1 paper
NM_032775.4
p.E134*
c.400G>T
2 papers
NM_032775.4
p.R204C
c.610C>T
1 paper
NM_032775.4
p.R245Q
c.734G>A
1 paper
NM_032775.4
p.C299*
c.897C>A
1 paper
NM_032775.4
p.T309M
c.926C>T
1 paper
NM_032775.4
p.S334F
c.1001C>T
1 paper
NM_032775.4
p.F350F
c.1050C>T
1 paper
NM_032775.4
p.V351I
c.1051G>A
1 paper
NM_032775.4
p.R76Splc
c.228-41C>G
1 paper
NM_032775.4
p.I401M
c.1203C>G
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