Varaico: Literature-Extracted Genetic Variants

KCNJ1

258 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 43–185UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 192–365UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 1

HGNC Alias Symbols

Kir1.1; ROMK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_153766.3

p.P308L

c.923C>T

Surrounding Variants

3 papers

NM_153766.3

p.P308S

c.922C>T

2 papers

NM_153766.3

p.P308P

c.924C>A

1 paper

NM_153766.3

p.R305C

c.913C>T

3 papers

NM_153766.3

p.T313fs

c.937_938fs

1 paper

NM_153766.3

p.K314R

c.941A>G

1 paper

NM_153766.3

p.K314T

c.941A>C

2 papers

NM_000220.6

p.L320P

c.959T>C

NM_153766.3

p.L301P

c.902T>C

1 paper

NM_153766.3

p.E315G

c.944A>G

1 paper

NM_153766.3

p.G316R

c.946G>C

1 paper

NM_153766.3

p.G316R

c.946G>A

1 paper

NM_153766.3

p.G316E

c.947G>A

1 paper

NM_153766.3

p.E299Q

c.895G>C