Varaico: Literature-Extracted Genetic Variants

Gene:KLHL21

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
1–12 of 73 variants
3 papers
NM_014851.4
p.R538H
c.1613G>A
3 papers
NM_014851.4
p.R571C
c.1711C>T
3 papers
NM_014851.4
p.R588W
c.1762C>T
2 papers
NM_014851.4
p.P11S
c.31C>T
2 papers
NM_014851.4
p.P15T
c.43C>A
2 papers
NM_014851.4
p.R275*
c.823C>T
2 papers
NM_014851.4
p.E300K
c.898G>A
2 papers
NM_014851.4
p.S449L
c.1346C>T
1 paper
NM_014851.4
p.R3Q
c.8G>A
1 paper
NM_014851.4
p.S20C
c.58A>T
1 paper
NM_014851.4
p.R29R
c.87C>T
1 paper
NM_014851.4
p.R32C
c.94C>T
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