Varaico: Literature-Extracted Genetic Variants

Gene:KLHL21
Variant:p.Q200*

KLHL21

65 papers

Pfam Domains

BTBaa 25–133UCSCBTB/POZ domain
BACKaa 138–239UCSCBTB And C-terminal Kelch
Kelch_1aa 277–321UCSCKelch motif
Kelch_1aa 325–369UCSCKelch motif
Kelch_1aa 503–547UCSCKelch motif

Gene Aliases

HGNC Name

kelch like family member 21

HGNC Alias Symbol

KIAA0469

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014851.4
p.Q200*
c.598C>T
Surrounding Variants
1 paper
NM_014851.4
p.Q219H
c.657G>T
1 paper
NM_014851.4
p.Q219H
c.657G>C
1 paper
NM_014851.4
p.Q219_L220delins
c.657_658delinsTT
1 paper
NM_014851.4
p.P177S
c.529C>T
1 paper
NM_014851.4
p.E174Q
c.520G>C
1 paper
NM_014851.4
p.R230P
c.689G>C
1 paper
NM_014851.4
p.R231S
c.691C>A
1 paper
NM_014851.4
p.R231delins
c.691_693delinsTCT
1 paper
NM_014851.4
p.E167D
c.501G>T
1 paper
NM_014851.4
p.E167D
c.501G>C
1 paper
NM_014851.4
p.F160L
c.480C>G
1 paper
NM_014851.4
p.F160L
c.480C>A
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