Varaico: Literature-Extracted Genetic Variants

Gene:KCTD19
Variant:p.Q100_T101Splc

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.Q100_T101Splc
c.300+2T>A
Surrounding Variants
1 paper
NM_001100915.3
p.Q100K
c.298C>A
1 paper
NM_001100915.3
p.F77del1
c.229_230delGAA
2 papers
NM_001100915.3
p.Y68insFs
c.202_203insAC
2 papers
NM_001100915.3
p.Y68fs
c.202_203fs
3 papers
NM_001100915.3
p.H67_Y68insFs
c.201_202insAC
1 paper
NM_001100915.3
p.V66M
c.196G>A
1 paper
NM_001100915.3
p.D59fs
c.175_176fs
2 papers
NM_001100915.3
p.D57N
c.169G>A
3 papers
NM_001100915.3
p.W40*
c.120G>A
3 papers
NM_001100915.3
p.W40*
c.119G>A
1 paper
NM_001100915.3
p.P35S
c.103C>T
1 paper
NM_001100915.3
p.M1I
c.3G>C
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