Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD13
Variant:p.V121M

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
3 papers
NM_001101362.3
p.V121M
c.361G>A
Surrounding Variants
1 paper
NM_001101362.3
p.D120fs
c.358_359fs
1 paper
NM_001101362.3
p.D120delFs
c.359delA
1 paper
NM_001101362.3
p.A125T
c.373G>A
1 paper
NM_001101362.3
p.A126T
c.376G>A
1 paper
NM_001101362.3
p.A114G
c.341C>G
1 paper
NM_001101362.3
p.A112T
c.334G>A
1 paper
NM_001101362.3
p.G132S
c.394G>A
1 paper
NM_001101362.3
p.E139del1
c.415_416delGAA
1 paper
NM_001101362.3
p.L140P
c.419T>C
1 paper
NM_001101362.3
p.R146C
c.436C>T
1 paper
NM_001101362.3
p.A147T
c.439G>A
1 paper
NM_001101362.3
p.P91T
c.271C>A
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