Varaico: Literature-Extracted Genetic Variants

Gene:KBTBD13
Variant:p.K390N

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
8 papers
NM_001101362.3
p.K390N
c.1170G>T
Surrounding Variants
8 papers
NM_001101362.3
p.K390N
c.1170G>C
1 paper
NM_001101362.3
p.K390T
c.1169A>C
4 papers
NM_001101362.3
p.R408S
c.1222C>A
13 papers
NM_001101362.3
p.R408C
c.1222C>T
1 paper
NM_001101362.3
p.C371S
c.1112G>C
1 paper
NM_001101362.3
p.C371S
c.1111T>A
2 papers
NM_001101362.3
p.T411M
c.1232C>T
2 papers
NM_001101362.3
p.I369M
c.1107C>G
1 paper
NM_001101362.3
p.G359G
c.1077A>G
1 paper
NM_001101362.3
p.D351Y
c.1051G>T
1 paper
NM_001101362.3
p.R350C
c.1048C>T
1 paper
NM_001101362.3
p.S435F
c.1304C>T
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