Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD4
Variant:p.W374*

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.W374*
c.1122G>A
Surrounding Variants
1 paper
NM_018095.6
p.W374*
c.1121G>A
1 paper
NM_018095.6
p.T375A
c.1123A>G
1 paper
NM_018095.6
p.W374R
c.1120T>C
1 paper
NM_018095.6
p.W374R
c.1120T>A
1 paper
NM_018095.6
p.T375I
c.1124C>T
1 paper
NM_018095.6
p.V373A
c.1118T>C
1 paper
NM_018095.6
p.E376G
c.1127A>G
1 paper
NM_018095.6
p.T377A
c.1129A>G
1 paper
NM_018095.6
p.T377I
c.1130C>T
1 paper
NM_018095.6
p.N372D
c.1114A>G
1 paper
NM_018095.6
p.T378A
c.1132A>G
1 paper
NM_018095.6
p.D371G
c.1112A>G
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