Varaico: Literature-Extracted Genetic Variants

KCNH5

145 papers

RefSeq Summary

This gene encodes a member of voltage-gated potassium channels. Members of this family have diverse functions, including regulating neurotransmitter and hormone release, cardiac function, and cell vol...

Pfam Domains

PAS_9aa 26–133UCSCPAS domain

Ion_transaa 214–479UCSCIon transport protein

cNMP_bindingaa 568–653UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 5

HGNC Alias Symbols

Kv10.2; H-EAG2; eag2; hEAG2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_139318.5

p.S321C

c.961A>T

Surrounding Variants

1 paper

NM_139318.5

p.S321R

c.961A>C

2 papers

NM_139318.5

p.S321N

c.962G>A

1 paper

NM_139318.5

p.S321R

c.963T>G

1 paper

NM_139318.5

p.S321R

c.963T>A

1 paper

NM_139318.5

p.S322A

c.964T>G

1 paper

NM_139318.5

p.L319H

c.956T>A

1 paper

NM_139318.5

p.L319F

c.955C>T

4 papers

NM_139318.5

p.K324E

c.970A>G

1 paper

NM_139318.5

p.V326L

c.976G>T

24 papers

NM_139318.5

p.R327H

c.980G>A

1 paper

NM_139318.5

p.E314_G315Splc

c.943-4C>T

6 papers

NM_139318.5

p.R333H

c.998G>A