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

64 papers

NM_172107.4

p.T274M

c.821C>T

Surrounding Variants

2 papers

NM_172107.4

p.L275V

c.823C>G

1 paper

NM_172107.4

p.I273M

c.819C>G

4 papers

NM_172107.4

p.I273N

c.818T>A

1 paper

NM_172107.4

p.I273V

c.817A>G

1 paper

NM_172107.4

p.T276S

c.826A>T

3 papers

NM_172107.4

p.T276P

c.826A>C

11 papers

NM_172107.4

p.T276I

c.827C>T

1 paper

NM_172107.4

p.T276S

c.827C>G

2 papers

NM_172107.4

p.T276N

c.827C>A

2 papers

NM_172107.4

p.T277S

c.829A>T

3 papers

NM_172107.4

p.T277A

c.829A>G

11 papers

NM_172107.4

p.T277I

c.830C>T