Varaico: Literature-Extracted Genetic Variants

KCNJ11

1,240 papers

RefSeq Summary

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rec...

Pfam Domains

IRKaa 1–87UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 94–267UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 11

HGNC Alias Symbols

Kir6.2; BIR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_000525.4

p.K67N

c.201G>C

Surrounding Variants

9 papers

NM_000525.4

p.K67N

c.201G>T

6 papers

NM_000525.4

p.W68G

c.202T>G

7 papers

NM_000525.4

p.W68R

c.202T>C

7 papers

NM_000525.4

p.W68R

c.202T>A

1 paper

NM_000525.4

p.K67M

c.200A>T

5 papers

NM_000525.4

p.W68L

c.203G>T

1 paper

NM_000525.4

p.K67E

c.199A>G

7 papers

NM_000525.4

p.W68C

c.204G>T

7 papers

NM_000525.4

p.W68C

c.204G>C

1 paper

NM_000525.4

p.L66delFs

c.197delA

1 paper

NM_000525.4

p.P69R

c.206C>G

1 paper

NM_000525.4

p.D65A

c.194A>C