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.P540L

c.1619C>T

Surrounding Variants

1 paper

NM_198503.5

p.P540S

c.1618C>T

2 papers

NM_198503.5

p.R541*

c.1621C>T

1 paper

NM_198503.5

p.N531S

c.1592A>G

1 paper

NM_198503.5

p.D530G

c.1589A>G

1 paper

NM_198503.5

p.D530H

c.1588G>C

1 paper

NM_198503.5

p.R528T

c.1583G>C

2 papers

NM_198503.5

p.T556I

c.1667C>T

1 paper

NM_198503.5

p.E559D

c.1677G>T

1 paper

NM_198503.5

p.E559D

c.1677G>C

1 paper

NM_198503.5

p.K518K

c.1554G>A

7 papers

NM_198503.5

p.K564*

c.1690A>T

1 paper

NM_198503.5

p.S572N

c.1715G>A