Varaico: Literature-Extracted Genetic Variants

Gene:KLHL21
Variant:p.R538H

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
3 papers
NM_014851.4
p.R538H
c.1613G>A
Surrounding Variants
1 paper
NM_014851.4
p.W540*
c.1619G>A
1 paper
NM_014851.4
p.W540*
c.1620G>A
1 paper
NM_014851.4
p.V542M
c.1624G>A
1 paper
NM_014851.4
p.R545Q
c.1634G>A
1 paper
NM_014851.4
p.D528D
c.1584C>T
1 paper
NM_014851.4
p.T550S
c.1648A>T
1 paper
NM_014851.4
p.T550S
c.1649C>G
1 paper
NM_014851.4
p.R560C
c.1678C>T
3 papers
NM_014851.4
p.R571C
c.1711C>T
1 paper
NM_014851.4
p.D576Y
c.1726G>T
1 paper
NM_014851.4
p.M582I
c.1746G>T
1 paper
NM_014851.4
p.M582I
c.1746G>C
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