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

1–12 of 157 variants

24 papers

NM_139318.5

p.R327H

c.980G>A

6 papers

NM_139318.5

p.R333H

c.998G>A

5 papers

NM_139318.5

p.A745T

c.2233G>A

4 papers

NM_139318.5

p.K324E

c.970A>G

3 papers

NM_139318.5

p.I463T

c.1388T>C

3 papers

NM_139318.5

p.R673W

c.2017C>T

2 papers

NM_139318.5

p.F67L

c.199T>C

2 papers

NM_139318.5

p.T202M

c.605C>T

2 papers

NM_139318.5

p.S321N

c.962G>A

2 papers

NM_139318.5

p.A461E

c.1382C>A

2 papers

NM_139318.5

p.T468P

c.1402A>C

2 papers

NM_139318.5

p.F471S

c.1412T>C