Varaico: Literature-Extracted Genetic Variants

KCNN2

106 papers

RefSeq Summary

Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Ea...

Pfam Domains

SK_channelaa 120–236UCSCCalcium-activated SK potassium channel

Ion_trans_2aa 317–399UCSCIon channel

SK_channelaa 332–448UCSCCalcium-activated SK potassium channel

CaMBDaa 412–486UCSCCalmodulin binding domain

Ion_trans_2aa 529–611UCSCIon channel

CaMBDaa 624–698UCSCCalmodulin binding domain

Gene Aliases

HGNC Name

potassium calcium-activated channel subfamily N member 2

HGNC Alias Symbols

KCa2.2; hSK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_021614.4

p.D373G

c.1118A>G

Surrounding Variants

1 paper

NM_021614.4

p.L367L

c.1101G>A

3 papers

NM_021614.4

p.V362I

c.1084G>A

1 paper

NM_021614.4

p.G357D

c.1070G>A

1 paper

NM_021614.4

p.L351V

c.1051C>G

1 paper

NM_021614.4

p.L351F

c.1051C>T

1 paper

NM_021614.4

p.L339R

c.1016T>G

2 papers

NM_021614.4

p.G330_Y331del0

c.988_993del6

1 paper

NM_021614.4

p.S321_S322del1

c.962_964delCCA

1 paper

NM_021614.4

p.G318S

c.952G>A

1 paper

NM_021614.4

p.G310W

c.928G>T

3 papers

NM_021614.4

p.S288delins

c.862_863delinsTC

1 paper

NM_021614.4

p.N286D

c.856A>G