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.T468P

c.1402A>C

Surrounding Variants

1 paper

NM_139318.5

p.G465E

c.1394G>A

2 papers

NM_139318.5

p.F471S

c.1412T>C

3 papers

NM_139318.5

p.I463T

c.1388T>C

2 papers

NM_139318.5

p.A461E

c.1382C>A

1 paper

NM_139318.5

p.R480Q

c.1439G>A

1 paper

NM_139318.5

p.H482Q

c.1446T>G

1 paper

NM_139318.5

p.H482Q

c.1446T>A

1 paper

NM_139318.5

p.R504Q

c.1511G>A

1 paper

NM_139318.5

p.K523N

c.1569G>T

1 paper

NM_139318.5

p.K523N

c.1569G>C