Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD11
Variant:p.V538A

KBTBD11

29 papers

Pfam Domains

BTBaa 138–231UCSCBTB/POZ domain
Kelch_1aa 348–399UCSCKelch motif
Kelch_1aa 401–442UCSCKelch motif

Gene Aliases

HGNC Name

kelch repeat and BTB domain containing 11

HGNC Alias Symbols

KIAA0711; KLHDC7C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014867.3
p.V538A
c.1613T>C
Surrounding Variants
1 paper
NM_014867.3
p.P544S
c.1630C>T
1 paper
NM_014867.3
p.R554C
c.1660C>T
1 paper
NM_014867.3
p.V496L
c.1486G>C
1 paper
NM_014867.3
p.V496L
c.1486G>T
1 paper
NM_014867.3
p.R491H
c.1472G>A
1 paper
NM_014867.3
p.C483Y
c.1448G>A
1 paper
NM_014867.3
p.L604P
c.1811T>C
1 paper
NM_014867.3
p.G463R
c.1387G>A
1 paper
NM_014867.3
p.G463R
c.1387G>C
1 paper
NM_014867.3
p.D429H
c.1285G>C
1 paper
NM_014867.3
p.R427C
c.1279C>T
1 paper
NM_014867.3
p.R396S
c.1188G>C
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