Varaico: Literature-Extracted Genetic Variants

KCTD9

8p21.2 (UCSC)OMIM GTEx

25 papers

Pfam Domains

KHAaa 2–64UCSCKHA, dimerisation domain of potassium ion channel

BTB_2aa 91–184UCSCBTB/POZ domain

Pentapeptideaa 224–260UCSCPentapeptide repeats (8 copies)

Pentapeptideaa 243–280UCSCPentapeptide repeats (8 copies)

Pentapeptideaa 303–342UCSCPentapeptide repeats (8 copies)

Pentapeptideaa 338–376UCSCPentapeptide repeats (8 copies)

Gene Aliases

HGNC Name

potassium channel tetramerization domain containing 9

HGNC Alias Symbols

FLJ20038; BTBD27

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017634.4

p.R140G

c.418C>G

Surrounding Variants

1 paper

NM_017634.4

p.R140Q

c.419G>A

1 paper

NM_017634.4

p.L152W

c.455T>G

1 paper

NM_017634.4

p.R153C

c.457C>T

1 paper

NM_017634.4

p.V125A

c.374T>C

1 paper

NM_017634.4

p.D161Y

c.481G>T

1 paper

NM_017634.4

p.R98Q

c.293G>A

1 paper

NM_017634.4

p.G97R

c.289G>A

2 papers

NM_017634.4

p.R173G

c.517A>G

1 paper

NM_017634.4

p.R219Q

c.656G>A

1 paper

NM_017634.4

p.R232H

c.695G>A

1 paper

NM_017634.4

p.G307Splc

c.920-7A>G

1 paper

NM_017634.4

p.G322V

c.965G>T