Varaico: Literature-Extracted Genetic Variants

Gene:KCNK13

KCNK13

67 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

Ion_trans_2aa 74–151UCSCIon channel
Ion_trans_2aa 195–285UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 13

HGNC Alias Symbols

K2p13.1; THIK-1; THIK1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
4 papers
NM_022054.4
p.S136P
c.406T>C
4 papers
NM_022054.4
p.Y273F
c.818A>T
3 papers
NM_022054.4
p.G305R
c.913G>A
3 papers
NM_022054.4
p.G305R
c.913G>C
2 papers
NM_022054.4
p.M1L
c.1A>C
2 papers
NM_022054.4
p.M1L
c.1A>T
2 papers
NM_022054.4
p.I125fs
c.373_374fs
2 papers
NM_022054.4
p.R163W
c.487C>T
2 papers
NM_022054.4
p.F262F
c.786C>T
2 papers
NM_022054.4
p.Y273S
c.818A>C
1 paper
NM_022054.4
p.M1R
c.2T>G
1 paper
NM_022054.4
p.R19H
c.56G>A
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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."