Varaico: Literature-Extracted Genetic Variants

KCNJ18

101 papers

RefSeq Summary

This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane po...

Pfam Domains

IRK_Naa 2–46UCSCInward rectifier potassium channel N-terminal

IRKaa 47–187UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 194–367UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 18

HGNC Alias Symbols

KIR2.6; TTPP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001194958.2

p.D402E

c.1206T>A

Surrounding Variants

2 papers

NM_001194958.2

p.D402E

c.1206T>G

1 paper

NM_001194958.2

p.G403V

c.1208G>T

2 papers

NM_001194958.2

p.R401W

c.1201C>T

5 papers

NM_001194958.2

p.S405I

c.1214G>T

11 papers

NM_001194958.2

p.R399*

c.1195C>T

9 papers

NM_001194958.2

p.Q407*

c.1219C>T

1 paper

NM_001194958.2

p.H410Y

c.1228C>T

2 papers

NM_001194958.2

p.G394R

c.1180G>A

2 papers

NM_001194958.2

p.G394R

c.1180G>C

2 papers

NM_001194958.2

p.E388K

c.1162G>A

1 paper

NM_001194958.2

p.G419S

c.1255G>A

1 paper

NM_001194958.2

p.R386C

c.1156C>T