Varaico: Literature-Extracted Genetic Variants

KCNQ2

955 papers

RefSeq Summary

The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protei...

Pfam Domains

Ion_transaa 91–324UCSCIon transport protein

KCNQ_channelaa 448–604UCSCKCNQ voltage-gated potassium channel

KCNQ_channelaa 466–651UCSCKCNQ voltage-gated potassium channel

KCNQ2_u3aa 665–756UCSCUnstructured region on Potassium channel subunit alpha KvLQT2

KCNQC3-Ank-G_bdaa 768–868UCSCAnkyrin-G binding motif of KCNQ2-3

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily Q member 2

HGNC Previous Symbols

EBN; EBN1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_172107.4

p.D282E

c.846C>A

Surrounding Variants

5 papers

NM_172107.4

p.D282E

c.846C>G

2 papers

NM_172107.4

p.D282V

c.845A>T

1 paper

NM_172107.4

p.K283E

c.847A>G

1 paper

NM_172107.4

p.D282G

c.845A>G

3 papers

NM_172107.4

p.K283insFs

c.847_848insGT

2 papers

NM_172107.4

p.D282Y

c.844G>T

3 papers

NM_172107.4

p.D282H

c.844G>C

6 papers

NM_172107.4

p.D282N

c.844G>A

3 papers

NM_172107.4

p.K283M

c.848A>T

4 papers

NM_172107.4

p.K283R

c.848A>G

1 paper

NM_172107.4

p.G281G

c.843G>T

9 papers

NM_172107.4

p.Y284D

c.850T>G