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.L183V

c.547C>G

Surrounding Variants

2 papers

NM_172107.4

p.V182G

c.545T>G

1 paper

NM_172107.4

p.V182A

c.545T>C

8 papers

NM_172107.4

p.V182M

c.544G>A

1 paper

NM_172107.4

p.A181A

c.543G>A

1 paper

NM_172107.4

p.A181G

c.542C>G

3 papers

NM_172107.4

p.A181P

c.541G>C

6 papers

NM_172107.4

p.A185T

c.553G>A

1 paper

NM_172107.4

p.A184delFs

c.551delG

1 paper

NM_172107.4

p.A185V

c.554C>T

1 paper

NM_172107.4

p.I180V

c.538A>G

1 paper

NM_172107.4

p.G186A

c.557G>C

1 paper

NM_172107.4

p.S187A

c.559T>G