Varaico: Literature-Extracted Genetic Variants

Gene:KCNK5
Variant:p.S10L

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
Selected Variant
1 paper
NM_003740.4
p.S10L
c.29C>T
Surrounding Variants
1 paper
NM_003740.4
p.P6L
c.17C>T
1 paper
NM_003740.4
p.G5delFs
c.14_15delGC
1 paper
NM_003740.4
p.F14_Y15del2
c.40_44del6
1 paper
NM_003740.4
p.V2L
c.4G>T
1 paper
NM_003740.4
p.E33K
c.97G>A
1 paper
NM_003740.4
p.C51S
c.151T>A
1 paper
NM_003740.4
p.C51S
c.152G>C
1 paper
NM_003740.4
p.I60_L61delFs
c.179_183del5
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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."