Varaico: Literature-Extracted Genetic Variants

KCNH6

99 papers

RefSeq Summary

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotr...

Pfam Domains

PAS_9aa 29–134UCSCPAS domain

Ion_transaa 256–523UCSCIon transport protein

cNMP_bindingaa 612–697UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 6

HGNC Alias Symbols

Kv11.2; HERG2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001278919.2

p.Q225_V226Splc

c.676-2A>G

Surrounding Variants

4 papers

NM_001278919.2

p.P235L

c.704C>T

1 paper

NM_001278919.2

p.R243C

c.727C>T

1 paper

NM_001278919.2

p.R243H

c.728G>A

1 paper

NM_001278919.2

p.I244I

c.732C>A

1 paper

NM_001278919.2

p.T248A

c.742A>G

1 paper

NM_001278919.2

p.V258fs

c.772_773fs

1 paper

NM_001278919.2

p.L266M

c.796C>A

1 paper

NM_001278919.2

p.T270M

c.809C>T

1 paper

NM_001278919.2

p.F273L

c.817T>C

1 paper

NM_001278919.2

p.F273S

c.818T>C

1 paper

NM_001278919.2

p.F273L

c.819C>A

1 paper

NM_001278919.2

p.F273L

c.819C>G