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.A267V

c.800C>T

Surrounding Variants

1 paper

NM_002232.5

p.A267S

c.799G>T

1 paper

NM_002232.5

p.S268P

c.802T>C

1 paper

NM_002232.5

p.P266L

c.797C>T

1 paper

NM_002232.5

p.S270S

c.810G>T

1 paper

NM_002232.5

p.Q271*

c.811C>T

1 paper

NM_002232.5

p.T269_S270del1

c.806_808delACG

1 paper

NM_002232.5

p.K263M

c.788A>T

1 paper

NM_002232.5

p.E262D

c.786G>T

1 paper

NM_002232.5

p.E262D

c.786G>C

1 paper

NM_002232.5

p.D272N

c.814G>A

1 paper

NM_002232.5

p.E262Q

c.784G>C

1 paper

NM_002232.5

p.S273A

c.817T>G