Varaico: Literature-Extracted Genetic Variants

Gene:KCNK5

KCNK5

94 papers

RefSeq Summary

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubule...

Pfam Domains

Ion_trans_2aa 60–138UCSCIon channel
Ion_trans_2aa 160–251UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 5

HGNC Alias Symbols

K2p5.1; TASK-2; TASK2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
6 papers
NM_003740.4
p.T108P
c.322A>C
5 papers
NM_003740.4
p.K365I
c.1094A>T
3 papers
NM_003740.4
p.R140C
c.418C>T
3 papers
NM_003740.4
p.R263W
c.787C>T
3 papers
NM_003740.4
p.A407T
c.1219G>A
2 papers
NM_003740.4
p.N103H
c.307A>C
2 papers
NM_003740.4
p.F241Y
c.722T>A
1 paper
NM_003740.4
p.V2L
c.4G>T
1 paper
NM_003740.4
p.G5delFs
c.14_15delGC
1 paper
NM_003740.4
p.P6L
c.17C>T
1 paper
NM_003740.4
p.S10L
c.29C>T
1 paper
NM_003740.4
p.F14_Y15del2
c.40_44del6
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."