Varaico: Literature-Extracted Genetic Variants

KCNN3

238 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 269–385UCSCCalcium-activated SK potassium channel

Ion_trans_2aa 461–563UCSCIon channel

CaMBDaa 576–650UCSCCalmodulin binding domain

Gene Aliases

HGNC Name

potassium calcium-activated channel subfamily N member 3

HGNC Alias Symbols

KCa2.3; hSK3; SKCA3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002249.6

p.R448H

c.1343G>A

Surrounding Variants

6 papers

NM_002249.6

p.V450L

c.1348G>C

1 paper

NM_002249.6

p.N446I

c.1337A>T

3 papers

NM_002249.6

p.F445L

c.1333T>C

1 paper

NM_002249.6

p.T453M

c.1358C>T

1 paper

NM_002249.6

p.I437S

c.1310T>G

8 papers

NM_002249.6

p.S436C

c.1306A>T

1 paper

NM_002249.6

p.R435C

c.1303C>T

1 paper

NM_002249.6

p.S433S

c.1299G>A

1 paper

NM_002249.6

p.I418_D431del14

c.1252_1292del42

1 paper

NM_002249.6

p.L464L

c.1392C>T

1 paper

NM_002249.6

p.L470V

c.1408C>G

1 paper

NM_002249.6

p.W471delFs

c.1411_1412delCA