Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD13
Variant:p.E83Q

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.E83Q
c.247G>C
Surrounding Variants
1 paper
NM_001101362.3
p.V82M
c.244G>A
1 paper
NM_001101362.3
p.C84*
c.252C>A
4 papers
NM_001101362.3
p.A81V
c.242C>T
1 paper
NM_001101362.3
p.Q80L
c.239A>T
1 paper
NM_001101362.3
p.Q80del1
c.238_239delCAG
1 paper
NM_001101362.3
p.P91T
c.271C>A
1 paper
NM_001101362.3
p.L72L
c.214C>T
3 papers
NM_001101362.3
p.G67R
c.199G>C
1 paper
NM_001101362.3
p.A60T
c.178G>A
1 paper
NM_001101362.3
p.F58fs
c.172_173fs
1 paper
NM_001101362.3
p.G57C
c.169G>T
1 paper
NM_001101362.3
p.F58_V64delFs
c.172_191del20
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