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

1 paper

NM_172107.4

p.Q286R

c.857A>G

Surrounding Variants

1 paper

NM_172107.4

p.Q286P

c.857A>C

3 papers

NM_172107.4

p.T287A

c.859A>G

1 paper

NM_172107.4

p.T287P

c.859A>C

8 papers

NM_172107.4

p.T287I

c.860C>T

14 papers

NM_172107.4

p.P285H

c.854C>A

9 papers

NM_172107.4

p.T287N

c.860C>A

7 papers

NM_172107.4

p.P285S

c.853C>T

10 papers

NM_172107.4

p.P285T

c.853C>A

2 papers

NM_172107.4

p.Y284*

c.852C>G

1 paper

NM_172107.4

p.Y284insFs

c.851dupA

2 papers

NM_172107.4

p.Y284*

c.852C>A

47 papers

NM_172107.4

p.Y284C

c.851A>G