Varaico: Literature-Extracted Genetic Variants

Gene:KCNK3
Variant:p.M247L

KCNK3

182 papers

RefSeq Summary

This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes...

Pfam Domains

Ion_trans_2aa 60–134UCSCIon channel
Ion_trans_2aa 165–248UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 3

HGNC Alias Symbols

K2p3.1; TASK; TASK-1; TASK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002246.3
p.M247L
c.739A>T
Surrounding Variants
1 paper
NM_002246.3
p.M247L
c.739A>C
1 paper
NM_002246.3
p.M249T
c.746T>C
1 paper
NM_002246.3
p.N250D
c.748A>G
1 paper
NM_002246.3
p.V243A
c.728T>C
1 paper
NM_002246.3
p.V242A
c.725T>C
1 paper
NM_002246.3
p.L241F
c.721C>T
1 paper
NM_002246.3
p.D253N
c.757G>A
1 paper
NM_002246.3
p.E254K
c.760G>A
1 paper
NM_002246.3
p.K255R
c.764A>G
1 paper
NM_002246.3
p.R256C
c.766C>T
2 papers
NM_002246.3
p.A237D
c.710C>A
1 paper
NM_002246.3
p.A237V
c.710C>T
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