Varaico: Literature-Extracted Genetic Variants

Gene:KCTD3
Variant:p.R421Q

KCTD3

69 papers

RefSeq Summary

This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In...

Pfam Domains

BTB_2aa 20–109UCSCBTB/POZ domain
BTB_2aa 20–109UCSCBTB/POZ domain

Gene Aliases

HGNC Name

potassium channel tetramerization domain containing 3

HGNC Alias Symbol

NY-REN-45

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016121.5
p.R421Q
c.1262G>A
Surrounding Variants
5 papers
NM_016121.5
p.R421*
c.1261C>T
1 paper
NM_016121.5
p.P411H
c.1232C>A
1 paper
NM_016121.5
p.E405Q
c.1213G>C
1 paper
NM_016121.5
p.R398Q
c.1193G>A
1 paper
NM_016121.5
p.R398*
c.1192C>T
1 paper
NM_016121.5
p.S380S
c.1140T>C
1 paper
NM_016121.5
p.S364P
c.1090T>C
1 paper
NM_016121.5
p.V356L
c.1066G>C
1 paper
NM_016121.5
p.V356L
c.1066G>T
1 paper
NM_016121.5
p.D353A
c.1058A>C
11 papers
NM_016121.5
p.P346fs
c.1036_1037fs
10 papers
NM_016121.5
p.P346_E358delFs
c.1036_1073del38
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