Varaico: Literature-Extracted Genetic Variants

Gene:KCNG1
Variant:p.V276delFs

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
1 paper
NM_002237.4
p.V276delFs
c.826delC
Surrounding Variants
1 paper
NM_002237.4
p.E272K
c.814G>A
1 paper
NM_002237.4
p.F269F
c.807C>T
1 paper
NM_002237.4
p.L284P
c.851T>C
2 papers
NM_002237.4
p.V268I
c.802G>A
1 paper
NM_002237.4
p.L285insFs
c.853_854insA
1 paper
NM_002237.4
p.N267Y
c.799A>T
1 paper
NM_002237.4
p.Q263delFs
c.787delG
1 paper
NM_002237.4
p.S299T
c.896G>C
3 papers
NM_002237.4
p.I304N
c.911T>A
1 paper
NM_002237.4
p.I304M
c.912C>G
1 paper
NM_002237.4
p.D319N
c.955G>A
1 paper
NM_002237.4
p.G324D
c.971G>A
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