Varaico: Literature-Extracted Genetic Variants

Gene:KCNK13
Variant:p.I139S

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
Selected Variant
1 paper
NM_022054.4
p.I139S
c.416T>G
Surrounding Variants
4 papers
NM_022054.4
p.S136P
c.406T>C
1 paper
NM_022054.4
p.S136A
c.406T>G
1 paper
NM_022054.4
p.L132F
c.394C>T
1 paper
NM_022054.4
p.R148C
c.442C>T
1 paper
NM_022054.4
p.T151T
c.453C>T
2 papers
NM_022054.4
p.I125fs
c.373_374fs
1 paper
NM_022054.4
p.A154T
c.460G>A
1 paper
NM_022054.4
p.S159P
c.475T>C
1 paper
NM_022054.4
p.A119V
c.356C>T
1 paper
NM_022054.4
p.S159L
c.476C>T
1 paper
NM_022054.4
p.P118L
c.353C>T
2 papers
NM_022054.4
p.R163W
c.487C>T
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