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

12 papers

NM_172107.4

p.H228Q

c.684C>A

Surrounding Variants

13 papers

NM_172107.4

p.H228Q

c.684C>G

8 papers

NM_172107.4

p.H228R

c.683A>G

1 paper

NM_172107.4

p.S229I

c.686G>T

1 paper

NM_172107.4

p.S229N

c.686G>A

4 papers

NM_172107.4

p.H228Y

c.682C>T

1 paper

NM_172107.4

p.H228_S229del2

c.682_686del6

1 paper

NM_172107.4

p.Y226fs

c.676_677fs

1 paper

NM_172107.4

p.K230N

c.690G>T

1 paper

NM_172107.4

p.K230N

c.690G>C

1 paper

NM_172107.4

p.V225A

c.674T>C

1 paper

NM_172107.4

p.V225I

c.673G>A

3 papers

NM_172107.4

p.V224A

c.671T>C