Varaico: Literature-Extracted Genetic Variants

Gene:KCNG1
Variant:p.S251G

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.S251G
c.751A>G
Surrounding Variants
1 paper
NM_002237.4
p.V237_P250delFs
c.709_748del40
1 paper
NM_002237.4
p.L252fs
c.754_755fs
2 papers
NM_002237.4
p.L249S
c.746T>C
1 paper
NM_002237.4
p.L252Fs
c.754_756delinsTTFs
1 paper
NM_002237.4
p.L252_E255delFs
c.755_764del10
1 paper
NM_002237.4
p.E257V
c.770A>T
1 paper
NM_002237.4
p.Q258H
c.774G>T
1 paper
NM_002237.4
p.Q258H
c.774G>C
1 paper
NM_002237.4
p.V234_T240insFs
c.701_720dup20
1 paper
NM_002237.4
p.V239I
c.715G>A
1 paper
NM_002237.4
p.L232P
c.695T>C
1 paper
NM_002237.4
p.S222*
c.665C>A
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