Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.I485T

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.I485T
c.1454T>C
Surrounding Variants
1 paper
NM_018095.6
p.I485V
c.1453A>G
1 paper
NM_018095.6
p.A486T
c.1456G>A
1 paper
NM_018095.6
p.A486V
c.1457C>T
1 paper
NM_018095.6
p.K484R
c.1451A>G
1 paper
NM_018095.6
p.W483*
c.1449G>A
1 paper
NM_018095.6
p.S487N
c.1460G>A
1 paper
NM_018095.6
p.W483*
c.1448G>A
1 paper
NM_018095.6
p.W483R
c.1447T>C
1 paper
NM_018095.6
p.W483R
c.1447T>A
1 paper
NM_018095.6
p.C488R
c.1462T>C
1 paper
NM_018095.6
p.L482P
c.1445T>C
1 paper
NM_018095.6
p.C488Y
c.1463G>A
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