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.S97G

c.289A>G

Surrounding Variants

1 paper

NM_001135106.2

p.D94A

c.281A>C

1 paper

NM_001135106.2

p.F100I

c.298T>A

1 paper

NM_001135106.2

p.D94N

c.280G>A

2 papers

NM_001135106.2

p.W93*

c.279G>A

2 papers

NM_001135106.2

p.W93*

c.278G>A

1 paper

NM_001135106.2

p.T107fs

c.319_320fs

1 paper

NM_001135106.2

p.T108P

c.322A>C

3 papers

NM_001135106.2

p.G110E

c.329G>A

7 papers

NM_001135106.2

p.L114P

c.341T>C

1 paper

NM_001135106.2

p.A115_S117del3

c.343_350del9

1 paper

NM_001135106.2

p.T118I

c.353C>T

1 paper

NM_001135106.2

p.E119Q

c.355G>C