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

1–12 of 664 variants

16 papers

NM_002232.5

p.P12A

c.34C>G

12 papers

NM_002232.5

p.I337V

c.1009A>G

9 papers

NM_002232.5

p.V369I

c.1105G>A

8 papers

NM_002232.5

p.K120T

c.359A>C

7 papers

NM_002232.5

p.G77R

c.229G>C

7 papers

NM_002232.5

p.S155R

c.463A>C

5 papers

NM_002232.5

p.E299V

c.896A>T

5 papers

NM_002232.5

p.V478M

c.1432G>A

4 papers

NM_002232.5

p.M53K

c.158T>A

4 papers

NM_002232.5

p.D141V

c.422A>T

4 papers

NM_002232.5

p.I177N

c.530T>A

3 papers

NM_002232.5

p.M1V

c.1A>G