Varaico: Literature-Extracted Genetic Variants

Gene:KCTD19
Variant:p.S482fs

KCTD19

47 papers

Pfam Domains

BTB_2aa 15–96UCSCBTB/POZ domain

Gene Aliases

HGNC Name

potassium channel tetramerization domain containing 19

HGNC Alias Symbol

FLJ40162

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001100915.3
p.S482fs
c.1444_1445fs
Surrounding Variants
3 papers
NM_001100915.3
p.Q487P
c.1460A>C
1 paper
NM_001100915.3
p.C470C
c.1410C>T
1 paper
NM_001100915.3
p.K464Splc
c.1391+1G>A
2 papers
NM_001100915.3
p.H447R
c.1340A>G
1 paper
NM_001100915.3
p.E504del1
c.1510_1511delTTC
1 paper
NM_001100915.3
p.E419K
c.1255G>A
1 paper
NM_001100915.3
p.P570H
c.1709C>A
1 paper
NM_001100915.3
p.R577Q
c.1730G>A
1 paper
NM_001100915.3
p.A582V
c.1745C>T
1 paper
NM_001100915.3
p.S622Y
c.1865C>A
2 papers
NM_001100915.3
p.D626A
c.1877A>C
1 paper
NM_001100915.3
p.A629T
c.1885G>A
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