Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.S491N

KBTBD4

37 papers

Pfam Domains

BTBaa 51–157UCSCBTB/POZ domain
BACKaa 163–250UCSCBTB And C-terminal Kelch
Kelch_2aa 290–331UCSCKelch motif

Gene Aliases

HGNC Name

kelch repeat and BTB domain containing 4

HGNC Previous Symbol

BKLHD4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018095.6
p.S491N
c.1472G>A
Surrounding Variants
1 paper
NM_018095.6
p.S491G
c.1471A>G
1 paper
NM_018095.6
p.I492V
c.1474A>G
1 paper
NM_018095.6
p.I492T
c.1475T>C
1 paper
NM_018095.6
p.Y493H
c.1477T>C
1 paper
NM_018095.6
p.N489K
c.1467C>G
1 paper
NM_018095.6
p.N489K
c.1467C>A
1 paper
NM_018095.6
p.Y493C
c.1478A>G
1 paper
NM_018095.6
p.V494A
c.1481T>C
1 paper
NM_018095.6
p.C488Y
c.1463G>A
1 paper
NM_018095.6
p.C488R
c.1462T>C
1 paper
NM_018095.6
p.S487N
c.1460G>A
1 paper
NM_018095.6
p.R496W
c.1486C>T
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