Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD13
Variant:p.V320L

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.V320L
c.958G>T
Surrounding Variants
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.T318T
c.954C>G
1 paper
NM_001101362.3
p.V333fs
c.997_998fs
1 paper
NM_001101362.3
p.P339L
c.1016C>T
1 paper
NM_001101362.3
p.G343fs
c.1027_1028fs
1 paper
NM_001101362.3
p.G343_H344delFs
c.1028_1032del5
1 paper
NM_001101362.3
p.Q293P
c.878A>C
1 paper
NM_001101362.3
p.D290V
c.869A>T
1 paper
NM_001101362.3
p.R350C
c.1048C>T
1 paper
NM_001101362.3
p.D351Y
c.1051G>T
1 paper
NM_001101362.3
p.A282T
c.844G>A
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