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.V191G

c.572T>G

Surrounding Variants

1 paper

NM_172107.4

p.F192L

c.574T>C

2 papers

NM_172107.4

p.F192C

c.575T>G

2 papers

NM_172107.4

p.F192S

c.575T>C

2 papers

NM_172107.4

p.N190I

c.569A>T

5 papers

NM_172107.4

p.N190S

c.569A>G

1 paper

NM_172107.4

p.F192L

c.576T>G

1 paper

NM_172107.4

p.F192L

c.576T>A

1 paper

NM_172107.4

p.N190Y

c.568A>T

8 papers

NM_172107.4

p.G189V

c.566G>T

1 paper

NM_172107.4

p.G189A

c.566G>C

1 paper

NM_172107.4

p.A193V

c.578C>T

1 paper

NM_172107.4

p.A193G

c.578C>G