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.L201insFs

c.601_602insA

Surrounding Variants

10 papers

NM_000220.6

p.L220F

c.658C>T

NM_153766.3

p.L201F

c.601C>T

1 paper

NM_153766.3

p.L201R

c.602T>G

7 papers

NM_153766.3

p.S200R

c.600C>G

NM_000220.6

p.S219R

c.657C>G

6 papers

NM_153766.3

p.S200R

c.600C>A

NM_000220.6

p.S219R

c.657C>A

6 papers

NM_153766.3

p.S200R

c.598A>C

NM_000220.6

p.S219R

c.655A>C

1 paper

NM_153766.3

p.G204S

c.610G>A

1 paper

NM_153766.3

p.L197F

c.589C>T

6 papers

NM_153766.3

p.A195V

c.584C>T

NM_000220.6

p.A214V

c.641C>T

1 paper

NM_153766.3

p.A195G

c.584C>G

1 paper

NM_153766.3

p.Y208C

c.623A>G

7 papers

NM_153766.3

p.R193P

c.578G>C

3 papers

NM_000220.6

p.R212*

c.634C>T

NM_153766.3

p.R193*

c.577C>T