Varaico: Literature-Extracted Genetic Variants

Gene:KCNK13
Variant:p.G305R

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
3 papers
NM_022054.4
p.G305R
c.913G>A
Surrounding Variants
3 papers
NM_022054.4
p.G305R
c.913G>C
1 paper
NM_022054.4
p.G305E
c.914G>A
1 paper
NM_022054.4
p.R308*
c.922C>T
1 paper
NM_022054.4
p.R308Q
c.923G>A
1 paper
NM_022054.4
p.R310H
c.929G>A
1 paper
NM_022054.4
p.N312N
c.936C>T
1 paper
NM_022054.4
p.G297V
c.890G>T
1 paper
NM_022054.4
p.V319I
c.955G>A
1 paper
NM_022054.4
p.I281M
c.843C>G
1 paper
NM_022054.4
p.F276S
c.827T>C
2 papers
NM_022054.4
p.Y273S
c.818A>C
1 paper
NM_022054.4
p.Y273C
c.818A>G
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