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.G371R

c.1111G>C

Surrounding Variants

1 paper

NM_139318.5

p.G371R

c.1111G>A

1 paper

NM_139318.5

p.I370I

c.1110C>T

1 paper

NM_139318.5

p.Y373*

c.1119C>G

1 paper

NM_139318.5

p.Y373*

c.1119C>A

1 paper

NM_139318.5

p.I366M

c.1098A>G

1 paper

NM_139318.5

p.V359E

c.1076T>A

1 paper

NM_139318.5

p.D386N

c.1156G>A

1 paper

NM_139318.5

p.L351V

c.1051C>G

1 paper

NM_139318.5

p.R401H

c.1202G>A

6 papers

NM_139318.5

p.R333H

c.998G>A

24 papers

NM_139318.5

p.R327H

c.980G>A

1 paper

NM_139318.5

p.V326L

c.976G>T