Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD13
Variant:p.G30D

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
2 papers
NM_001101362.3
p.G30D
c.89G>A
Surrounding Variants
2 papers
NM_001101362.3
p.V26M
c.76G>A
1 paper
NM_001101362.3
p.S38S
c.114C>A
1 paper
NM_001101362.3
p.G39R
c.115G>C
1 paper
NM_001101362.3
p.R44H
c.131G>A
1 paper
NM_001101362.3
p.W12C
c.36G>T
1 paper
NM_001101362.3
p.R49R
c.147C>G
1 paper
NM_001101362.3
p.L50L
c.148C>T
1 paper
NM_001101362.3
p.V9M
c.25G>A
1 paper
NM_001101362.3
p.A55G
c.164C>G
1 paper
NM_001101362.3
p.P5A
c.13C>G
1 paper
NM_001101362.3
p.F58_V64delFs
c.172_191del20
1 paper
NM_001101362.3
p.G57C
c.169G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."