Varaico: Literature-Extracted Genetic Variants

KCNH3

85 papers

RefSeq Summary

The protein encoded by this gene is a voltage-gated potassium channel alpha subunit predominantly expressed in the forebrain. Studies in mice have found that cognitive function increases when this gen...

Pfam Domains

PAS_9aa 31–135UCSCPAS domain

Ion_transaa 224–512UCSCIon transport protein

cNMP_bindingaa 601–681UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 3

HGNC Alias Symbols

Kv12.2; BEC1; elk2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012284.3

p.E1022D

c.3066G>T

Surrounding Variants

1 paper

NM_012284.3

p.E1022D

c.3066G>C

1 paper

NM_012284.3

p.S1021P

c.3061T>C

1 paper

NM_012284.3

p.P1020_S1021delFs

c.3060_3063del4

1 paper

NM_012284.3

p.P1020_S1021delFs

c.3059_3062del4

1 paper

NM_012284.3

p.P1020_S1021del2

c.3058_3062del6

1 paper

NM_012284.3

p.S1017S

c.3051C>T

1 paper

NM_012284.3

p.P1020del1

c.3058_3059delCCT

2 papers

NM_012284.3

p.A981A

c.2943G>A

1 paper

NM_012284.3

p.G1069A

c.3206G>C

1 paper

NM_012284.3

p.P966L

c.2897C>T

1 paper

NM_012284.3

p.R965C

c.2893C>T

1 paper

NM_012284.3

p.V1083F

c.3247G>T