Varaico: Literature-Extracted Genetic Variants

Gene:KCTD16
Variant:p.H416L

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
2 papers
NM_020768.4
p.H416L
c.1247A>T
Surrounding Variants
1 paper
NM_020768.4
p.P417S
c.1249C>T
1 paper
NM_020768.4
p.R410W
c.1228C>T
1 paper
NM_020768.4
p.D401N
c.1201G>A
1 paper
NM_020768.4
p.C398fs
c.1192_1193fs
3 papers
NM_020768.4
p.A384fs
c.1150_1151fs
1 paper
NM_020768.4
p.A384fs
c.1150_1151fs
3 papers
NM_020768.4
p.K381fs
c.1141_1142fs
1 paper
NM_020768.4
p.K383insFs
c.1149dupA
1 paper
NM_020768.4
p.K383insFs
c.1148_1149dupAA
2 papers
NM_020768.4
p.K383delFs
c.1149delA
1 paper
NM_020768.4
p.D364N
c.1090G>A
1 paper
NM_020768.4
p.R361Q
c.1082G>A
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