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.T390R

c.1169C>G

Surrounding Variants

1 paper

NM_002232.5

p.Q389P

c.1166A>C

3 papers

NM_002232.5

p.I386F

c.1156A>T

1 paper

NM_002232.5

p.Q385insFs

c.1154dupA

1 paper

NM_002232.5

p.M395V

c.1183A>G

1 paper

NM_002232.5

p.E397K

c.1189G>A

1 paper

NM_002232.5

p.G383R

c.1147G>C

1 paper

NM_002232.5

p.G383R

c.1147G>A

1 paper

NM_002232.5

p.L398P

c.1193T>C

1 paper

NM_002232.5

p.S381_K382insATC

c.1141_1145ins9

1 paper

NM_002232.5

p.F403V

c.1207T>G

1 paper

NM_002232.5

p.F403S

c.1208T>C

1 paper

NM_002232.5

p.I374S

c.1121T>G