Varaico: Literature-Extracted Genetic Variants

Gene:KCNK12
Variant:p.C27del1

KCNK12

39 papers

RefSeq Summary

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, how...

Pfam Domains

Ion_trans_2aa 94–170UCSCIon channel
Ion_trans_2aa 216–304UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 12

HGNC Alias Symbols

THIK-2; THIK2; K2p12.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022055.2
p.C27del1
c.79_80delGCA
Surrounding Variants
1 paper
NM_022055.2
p.C27_R28ins8
c.79_83ins24
1 paper
NM_022055.2
p.S21F
c.62C>T
1 paper
NM_022055.2
p.R12H
c.35G>A
1 paper
NM_022055.2
p.R11H
c.32G>A
1 paper
NM_022055.2
p.P10fs
c.28_29fs
1 paper
NM_022055.2
p.P9delFs
c.27delC
1 paper
NM_022055.2
p.P9_P10insFs
c.27_28ins8
1 paper
NM_022055.2
p.A81G
c.242C>G
1 paper
NM_022055.2
p.V123L
c.367G>T
1 paper
NM_022055.2
p.V123L
c.367G>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."