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

1 paper

NM_000525.4

p.L251delFs

c.751delG

Surrounding Variants

7 papers

NM_000525.4

p.V252L

c.754G>T

7 papers

NM_000525.4

p.V252L

c.754G>C

7 papers

NM_000525.4

p.V252M

c.754G>A

6 papers

NM_000525.4

p.V252G

c.755T>G

1 paper

NM_000525.4

p.F250C

c.749T>G

13 papers

NM_000525.4

p.V252A

c.755T>C

1 paper

NM_000525.4

p.F250S

c.749T>C

1 paper

NM_000525.4

p.V252fs

c.754_755fs

1 paper

NM_000525.4

p.V252delFs

c.755delA

1 paper

NM_000525.4

p.P254S

c.760C>T

8 papers

NM_000525.4

p.P254L

c.761C>T

2 papers

NM_000525.4

p.P254Q

c.761C>A