Varaico: Literature-Extracted Genetic Variants

KCNT2

1q31.3 (UCSC)OMIM PanelApp GTEx

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

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

1 paper

NM_198503.5

p.W171*

c.513G>A

Surrounding Variants

1 paper

NM_198503.5

p.W171*

c.512G>A

1 paper

NM_198503.5

p.L168delFs

c.504delC

1 paper

NM_198503.5

p.N161delFs

c.482delT

1 paper

NM_198503.5

p.R160S

c.480G>T

1 paper

NM_198503.5

p.R160S

c.480G>C

2 papers

NM_198503.5

p.W156L

c.467G>T

1 paper

NM_198503.5

p.S153_I154Splc

c.460-126A>G

1 paper

NM_198503.5

p.A147V

c.440C>T

1 paper

NM_198503.5

p.I144L

c.430A>T

1 paper

NM_198503.5

p.I144L

c.430A>C

1 paper

NM_198503.5

p.L142V

c.424T>G

1 paper

NM_198503.5

p.R137Q

c.410G>A