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.D422E

c.1266C>A

Surrounding Variants

1 paper

NM_002232.5

p.D422E

c.1266C>G

1 paper

NM_002232.5

p.D422A

c.1265A>C

3 papers

NM_002232.5

p.A421V

c.1262C>T

1 paper

NM_002232.5

p.E420A

c.1259A>C

1 paper

NM_002232.5

p.E420*

c.1258G>T

1 paper

NM_002232.5

p.E420K

c.1258G>A

1 paper

NM_002232.5

p.A419P

c.1255G>C

2 papers

NM_002232.5

p.A419T

c.1255G>A

1 paper

NM_002232.5

p.G427D

c.1280G>A

2 papers

NM_002232.5

p.Y417Y

c.1251C>T

1 paper

NM_002232.5

p.S429C

c.1285A>T

1 paper

NM_002232.5

p.A415V

c.1244C>T