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.E182A

c.545A>C

Surrounding Variants

2 papers

NM_002232.5

p.E182D

c.546G>C

3 papers

NM_002232.5

p.E182E

c.546G>A

3 papers

NM_002232.5

p.E182K

c.544G>A

1 paper

NM_002232.5

p.E183K

c.547G>A

1 paper

NM_002232.5

p.S181F

c.542C>T

1 paper

NM_002232.5

p.E183G

c.548A>G

1 paper

NM_002232.5

p.I184T

c.551T>C

2 papers

NM_002232.5

p.R185L

c.554G>T

1 paper

NM_002232.5

p.F186_Y187insGTT

c.556_560ins9

2 papers

NM_002232.5

p.D178N

c.532G>A

1 paper

NM_002232.5

p.I177I

c.531C>A

4 papers

NM_002232.5

p.I177N

c.530T>A