Varaico: Literature-Extracted Genetic Variants

Gene:KCTD3
Variant:p.P346fs

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
11 papers
NM_016121.5
p.P346fs
c.1036_1037fs
Surrounding Variants
10 papers
NM_016121.5
p.P346_E358delFs
c.1036_1073del38
1 paper
NM_016121.5
p.P346delFs
c.1036_1037delCC
1 paper
NM_016121.5
p.D353A
c.1058A>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.S364P
c.1090T>C
1 paper
NM_016121.5
p.D341Splc
c.1021+27C>T
1 paper
NM_016121.5
p.C332delFs
c.994_995delTG
1 paper
NM_016121.5
p.A324V
c.971C>T
1 paper
NM_016121.5
p.D322Y
c.964G>T
1 paper
NM_016121.5
p.D314N
c.940G>A
1 paper
NM_016121.5
p.S380S
c.1140T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."