Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD13
Variant:p.A282T

KBTBD13

92 papers

RefSeq Summary

The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability t...

Pfam Domains

BTBaa 6–105UCSCBTB/POZ domain
Kelch_1aa 199–245UCSCKelch motif
Kelch_1aa 247–292UCSCKelch motif

Gene Aliases

HGNC Name

kelch repeat and BTB domain containing 13

HGNC Alias Symbols

hCG_1645727; NEM6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001101362.3
p.A282T
c.844G>A
Surrounding Variants
1 paper
NM_001101362.3
p.P280S
c.838C>T
1 paper
NM_001101362.3
p.D290V
c.869A>T
1 paper
NM_001101362.3
p.Q293P
c.878A>C
1 paper
NM_001101362.3
p.T270M
c.809C>T
1 paper
NM_001101362.3
p.G265D
c.794G>A
1 paper
NM_001101362.3
p.D257H
c.769G>C
5 papers
NM_001101362.3
p.R248S
c.742C>A
2 papers
NM_001101362.3
p.R248C
c.742C>T
1 paper
NM_001101362.3
p.T318T
c.954C>G
1 paper
NM_001101362.3
p.V320M
c.958G>A
1 paper
NM_001101362.3
p.V320L
c.958G>C
1 paper
NM_001101362.3
p.V320L
c.958G>T
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