Varaico: Literature-Extracted Genetic Variants

Gene:KCNG1
Variant:p.L128R

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
Selected Variant
5 papers
NM_002237.4
p.L128R
c.383T>G
Surrounding Variants
1 paper
NM_002237.4
p.L128Q
c.383T>A
1 paper
NM_002237.4
p.I127S
c.380T>G
1 paper
NM_002237.4
p.I127N
c.380T>A
1 paper
NM_002237.4
p.I127F
c.379A>T
1 paper
NM_002237.4
p.T126N
c.377C>A
1 paper
NM_002237.4
p.F124L
c.372C>A
1 paper
NM_002237.4
p.A123T
c.367G>A
1 paper
NM_002237.4
p.G122R
c.364G>C
1 paper
NM_002237.4
p.G122R
c.364G>A
1 paper
NM_002237.4
p.K135E
c.403A>G
1 paper
NM_002237.4
p.K135N
c.405G>T
1 paper
NM_002237.4
p.K135N
c.405G>C
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