Varaico: Literature-Extracted Genetic Variants

KCNJ5

663 papers

RefSeq Summary

This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a s...

Pfam Domains

IRKaa 54–193UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 200–372UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 5

HGNC Alias Symbols

Kir3.4; KATP1; GIRK4; LQT13

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000890.5

p.T100_G105del0

c.299_313del15

Surrounding Variants

1 paper

NM_000890.5

p.T100N

c.299C>A

2 papers

NM_000890.5

p.T100T

c.300C>G

3 papers

NM_000890.5

p.V99I

c.295G>A

1 paper

NM_000890.5

p.T98S

c.293C>G

5 papers

NM_000890.5

p.W101C

c.303G>C

5 papers

NM_000890.5

p.W101C

c.303G>T

1 paper

NM_000890.5

p.L102_F103del0

c.304_309del6

1 paper

NM_000890.5

p.L102_F106del0

c.306_317del12

1 paper

NM_000890.5

p.Y97*

c.291C>G

1 paper

NM_000890.5

p.L102Q

c.305T>A

1 paper

NM_000890.5

p.F103_G105del0

c.308_313del6

1 paper

NM_000890.5

p.V96L

c.286G>C