Varaico: Literature-Extracted Genetic Variants

Gene:KCNG1

KCNG1

240 papers

RefSeq Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotr...

Pfam Domains

BTB_2aa 65–164UCSCBTB/POZ domain
Ion_transaa 226–471UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel modifier subfamily G member 1

HGNC Alias Symbols

Kv6.1; kH2; K13

Papers
RefSeq ID
Protein change
DNA change
1–12 of 180 variants
5 papers
NM_002237.4
p.L128R
c.383T>G
5 papers
NM_002237.4
p.D190V
c.569A>T
4 papers
NM_002237.4
p.L394R
c.1181T>G
4 papers
NM_002237.4
p.W416C
c.1248G>T
4 papers
NM_002237.4
p.W416C
c.1248G>C
3 papers
NM_002237.4
p.F39I
c.115T>A
3 papers
NM_002237.4
p.I304N
c.911T>A
2 papers
NM_002237.4
p.R47Q
c.140G>A
2 papers
NM_002237.4
p.G71A
c.212G>C
2 papers
NM_002237.4
p.I101T
c.302T>C
2 papers
NM_002237.4
p.D190G
c.569A>G
2 papers
NM_002237.4
p.G202R
c.604G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."