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.A193D

c.578C>A

Surrounding Variants

1 paper

NM_172107.4

p.A193V

c.578C>T

1 paper

NM_172107.4

p.A193G

c.578C>G

1 paper

NM_172107.4

p.F192L

c.576T>G

1 paper

NM_172107.4

p.F192L

c.576T>A

2 papers

NM_172107.4

p.T194P

c.580A>C

2 papers

NM_172107.4

p.F192C

c.575T>G

2 papers

NM_172107.4

p.F192S

c.575T>C

1 paper

NM_172107.4

p.F192L

c.574T>C

1 paper

NM_172107.4

p.S195A

c.583T>G

7 papers

NM_172107.4

p.S195P

c.583T>C

1 paper

NM_172107.4

p.V191G

c.572T>G

2 papers

NM_172107.4

p.S195F

c.584C>T