Varaico: Literature-Extracted Genetic Variants

Gene:KCNK9
Variant:p.E130Q

KCNK9

148 papers

RefSeq Summary

This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene...

Pfam Domains

Ion_trans_2aa 61–134UCSCIon channel
Ion_trans_2aa 160–248UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 9

HGNC Alias Symbols

K2p9.1; TASK3; TASK-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001282534.2
p.E130Q
c.388G>C
Surrounding Variants
1 paper
NM_001282534.2
p.G129A
c.386G>C
3 papers
NM_001282534.2
p.G129D
c.386G>A
2 papers
NM_001282534.2
p.R131C
c.391C>T
3 papers
NM_001282534.2
p.R131S
c.391C>A
2 papers
NM_001282534.2
p.R131P
c.392G>C
3 papers
NM_001282534.2
p.R131H
c.392G>A
2 papers
NM_001282534.2
p.M132R
c.395T>G
1 paper
NM_001282534.2
p.N133D
c.397A>G
2 papers
NM_001282534.2
p.N133S
c.398A>G
1 paper
NM_001282534.2
p.N133T
c.398A>C
1 paper
NM_001282534.2
p.F125Y
c.374T>A
1 paper
NM_001282534.2
p.F125V
c.373T>G
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."