Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.T338I

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.T338I
c.1013C>T
Surrounding Variants
1 paper
NM_018095.6
p.T338A
c.1012A>G
1 paper
NM_018095.6
p.L339P
c.1016T>C
1 paper
NM_018095.6
p.H337R
c.1010A>G
1 paper
NM_018095.6
p.H337Y
c.1009C>T
1 paper
NM_018095.6
p.V340M
c.1018G>A
1 paper
NM_018095.6
p.V340A
c.1019T>C
1 paper
NM_018095.6
p.Q336R
c.1007A>G
1 paper
NM_018095.6
p.Q336*
c.1006C>T
1 paper
NM_018095.6
p.S341P
c.1021T>C
1 paper
NM_018095.6
p.L335P
c.1004T>C
1 paper
NM_018095.6
p.S341F
c.1022C>T
1 paper
NM_018095.6
p.L335F
c.1003C>T
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