Varaico: Literature-Extracted Genetic Variants

Gene:KCTD16
Variant:p.R197K

KCTD16

52 papers

Pfam Domains

BTB_2aa 27–122UCSCBTB/POZ domain
H1_KCTD8_12_16aa 164–278UCSCKCTD8/12/16 H1 domain

Gene Aliases

HGNC Name

potassium channel tetramerization domain containing 16

HGNC Alias Symbol

KIAA1317

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020768.4
p.R197K
c.590G>A
Surrounding Variants
1 paper
NM_020768.4
p.R187Q
c.560G>A
1 paper
NM_020768.4
p.P219S
c.655C>T
1 paper
NM_020768.4
p.R161H
c.482G>A
1 paper
NM_020768.4
p.R161C
c.481C>T
2 papers
NM_020768.4
p.D160N
c.478G>A
1 paper
NM_020768.4
p.A236D
c.707C>A
1 paper
NM_020768.4
p.S241fs
c.721_722fs
1 paper
NM_020768.4
p.S241delFs
c.723delA
1 paper
NM_020768.4
p.H246D
c.736C>G
1 paper
NM_020768.4
p.A249T
c.745G>A
1 paper
NM_020768.4
p.G104E
c.311G>A
1 paper
NM_020768.4
p.K103R
c.308A>G
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