Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD13
Variant:p.A205T

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.A205T
c.613G>A
Surrounding Variants
1 paper
NM_001101362.3
p.T206M
c.617C>T
1 paper
NM_001101362.3
p.A197T
c.589G>A
1 paper
NM_001101362.3
p.L190V
c.568C>G
1 paper
NM_001101362.3
p.T189M
c.566C>T
1 paper
NM_001101362.3
p.R188H
c.563G>A
1 paper
NM_001101362.3
p.V225I
c.673G>A
1 paper
NM_001101362.3
p.E226G
c.677A>G
1 paper
NM_001101362.3
p.L180P
c.539T>C
1 paper
NM_001101362.3
p.R175L
c.524G>T
1 paper
NM_001101362.3
p.R175C
c.523C>T
1 paper
NM_001101362.3
p.S174L
c.521C>T
1 paper
NM_001101362.3
p.R175insFs
c.524_525dupGC
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