Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD13

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
1–12 of 82 variants
13 papers
NM_001101362.3
p.R408C
c.1222C>T
8 papers
NM_001101362.3
p.K390N
c.1170G>C
8 papers
NM_001101362.3
p.K390N
c.1170G>T
5 papers
NM_001101362.3
p.R248S
c.742C>A
4 papers
NM_001101362.3
p.A81V
c.242C>T
4 papers
NM_001101362.3
p.R408S
c.1222C>A
3 papers
NM_001101362.3
p.G67R
c.199G>C
3 papers
NM_001101362.3
p.V121M
c.361G>A
2 papers
NM_001101362.3
p.V26M
c.76G>A
2 papers
NM_001101362.3
p.G30D
c.89G>A
2 papers
NM_001101362.3
p.E83Q
c.247G>C
2 papers
NM_001101362.3
p.R248C
c.742C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."