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.L807P

c.2420T>C

Surrounding Variants

1 paper

NM_012284.3

p.E805E

c.2415G>A

1 paper

NM_012284.3

p.D819E

c.2457T>A

1 paper

NM_012284.3

p.D819E

c.2457T>G

1 paper

NM_012284.3

p.R776Q

c.2327G>A

1 paper

NM_012284.3

p.S763*

c.2288C>A

1 paper

NM_012284.3

p.S763*

c.2288C>G

1 paper

NM_012284.3

p.S761L

c.2282C>T

1 paper

NM_012284.3

p.G735V

c.2204G>T

1 paper

NM_012284.3

p.K731del1

c.2191_2192delAAG

3 papers

NM_012284.3

p.S846P

c.2536T>C

1 paper

NM_012284.3

p.E849D

c.2547A>C

1 paper

NM_012284.3

p.E849D

c.2547A>T