Varaico: Literature-Extracted Genetic Variants

KCNA3

1,456 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

BTB_2aa 106–197UCSCBTB/POZ domain

Ion_transaa 233–491UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 3

HGNC Alias Symbols

Kv1.3; MK3; HLK3; HPCN3; RP11-284N8.3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002232.5

p.T345Fs

c.1033delinsGCAFs

Surrounding Variants

1 paper

NM_002232.5

p.G344A

c.1031G>C

1 paper

NM_002232.5

p.L343R

c.1028T>G

1 paper

NM_002232.5

p.L343Q

c.1028T>A

1 paper

NM_002232.5

p.A348T

c.1042G>A

1 paper

NM_002232.5

p.E346_L347del1

c.1038_1040delAGC

1 paper

NM_002232.5

p.P338L

c.1013C>T

1 paper

NM_002232.5

p.G352R

c.1054G>C

1 paper

NM_002232.5

p.P338S

c.1012C>T

2 papers

NM_002232.5

p.G352A

c.1055G>C

1 paper

NM_002232.5

p.I337fs

c.1009_1010fs

12 papers

NM_002232.5

p.I337V

c.1009A>G

2 papers

NM_002232.5

p.I336delFs

c.1008delG