Varaico: Literature-Extracted Genetic Variants

Gene:KLHL22

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
1–12 of 36 variants
2 papers
NM_032775.4
p.M1L
c.1A>T
2 papers
NM_032775.4
p.R204C
c.610C>T
1 paper
NM_032775.4
p.M1L
c.1A>C
1 paper
NM_032775.4
p.Q5insFs
c.13dupC
1 paper
NM_032775.4
p.P20Q
c.59C>A
1 paper
NM_032775.4
p.A30T
c.88G>A
1 paper
NM_032775.4
p.R38Q
c.113G>A
1 paper
NM_032775.4
p.E62Q
c.184G>C
1 paper
NM_032775.4
p.H64P
c.191A>C
1 paper
NM_032775.4
p.R76Splc
c.228-41C>G
1 paper
NM_032775.4
p.E134*
c.400G>T
1 paper
NM_032775.4
p.E149K
c.445G>A
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