Varaico: Literature-Extracted Genetic Variants

KCNK16

62 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current und...

Pfam Domains

Ion_trans_2aa 67–149UCSCIon channel

Ion_trans_2aa 170–253UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 16

HGNC Alias Symbols

K2p16.1; TALK-1; TALK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001135106.2

p.R13Q

c.38G>A

Surrounding Variants

1 paper

NM_001135106.2

p.M1ins1

c.2_3insCTC

1 paper

NM_001135106.2

p.T30T

c.90T>A

2 papers

NM_001135106.2

p.R37M

c.110G>T

1 paper

NM_001135106.2

p.R53H

c.158G>A

1 paper

NM_001135106.2

p.L61P

c.182T>C

2 papers

NM_001135106.2

p.W93*

c.278G>A

2 papers

NM_001135106.2

p.W93*

c.279G>A

1 paper

NM_001135106.2

p.D94N

c.280G>A

1 paper

NM_001135106.2

p.D94A

c.281A>C

1 paper

NM_001135106.2

p.S97G

c.289A>G

1 paper

NM_001135106.2

p.F100I

c.298T>A

1 paper

NM_001135106.2

p.T107fs

c.319_320fs