Varaico: Literature-Extracted Genetic Variants

Gene:KCNK5
Variant:p.F241Y

KCNK5

94 papers

RefSeq Summary

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubule...

Pfam Domains

Ion_trans_2aa 60–138UCSCIon channel
Ion_trans_2aa 160–251UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 5

HGNC Alias Symbols

K2p5.1; TASK-2; TASK2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003740.4
p.F241Y
c.722T>A
Surrounding Variants
1 paper
NM_003740.4
p.N243K
c.729C>G
1 paper
NM_003740.4
p.N243K
c.729C>A
1 paper
NM_003740.4
p.K245N
c.735G>T
1 paper
NM_003740.4
p.K245N
c.735G>C
1 paper
NM_003740.4
p.G234W
c.700G>T
1 paper
NM_003740.4
p.Y232S
c.695A>C
1 paper
NM_003740.4
p.E251Q
c.751G>C
1 paper
NM_003740.4
p.E251D
c.753A>T
1 paper
NM_003740.4
p.E251D
c.753A>C
1 paper
NM_003740.4
p.V252F
c.754G>T
1 paper
NM_003740.4
p.K254T
c.761A>C
1 paper
NM_003740.4
p.E228A
c.683A>C
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