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

2 papers

NM_139318.5

p.R677C

c.2029C>T

Surrounding Variants

1 paper

NM_139318.5

p.F676C

c.2027T>G

1 paper

NM_139318.5

p.R673_I674Splc

c.2020-4A>G

1 paper

NM_139318.5

p.R689H

c.2066G>A

1 paper

NM_139318.5

p.L690R

c.2069T>G

1 paper

NM_139318.5

p.Q722*

c.2164C>T

1 paper

NM_139318.5

p.P729S

c.2185C>T

1 paper

NM_139318.5

p.D728delFs

c.2184delG

1 paper

NM_139318.5

p.G744A

c.2231G>C

5 papers

NM_139318.5

p.A745T

c.2233G>A

1 paper

NM_139318.5

p.V755L

c.2263G>T

1 paper

NM_139318.5

p.V755L

c.2263G>C

1 paper

NM_139318.5

p.V755G

c.2264T>G