Varaico: Literature-Extracted Genetic Variants

Gene:KCNT2
Variant:p.L313S

KCNT2

174 papers

Pfam Domains

Ion_trans_2aa 198–281UCSCIon channel
Slo-like_RCKaa 297–417UCSCCalcium-activated potassium channel slowpoke-like RCK domain
BK_channel_aaa 432–526UCSCCalcium-activated BK potassium channel alpha subunit
Slo-like_RCKaa 716–837UCSCCalcium-activated potassium channel slowpoke-like RCK domain
Slo-like_RCKaa 716–837UCSCCalcium-activated potassium channel slowpoke-like RCK domain

Gene Aliases

HGNC Name

potassium sodium-activated channel subfamily T member 2

HGNC Alias Symbols

KCa4.2; SLICK; SLO2.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_198503.5
p.L313S
c.938T>C
Surrounding Variants
1 paper
NM_198503.5
p.V303I
c.907G>A
1 paper
NM_198503.5
p.V302V
c.906C>A
1 paper
NM_198503.5
p.V302D
c.905T>A
1 paper
NM_198503.5
p.R295*
c.883A>T
1 paper
NM_198503.5
p.Y291*
c.873T>G
1 paper
NM_198503.5
p.Y291*
c.873T>A
2 papers
NM_198503.5
p.G289E
c.866G>A
1 paper
NM_198503.5
p.E283D
c.849G>T
1 paper
NM_198503.5
p.E283D
c.849G>C
2 papers
NM_198503.5
p.Q276E
c.826C>G
3 papers
NM_198503.5
p.E275D
c.825A>T
3 papers
NM_198503.5
p.E275D
c.825A>C
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