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

42 papers

NM_172107.4

p.A294V

c.881C>T

Surrounding Variants

19 papers

NM_172107.4

p.A294G

c.881C>G

1 paper

NM_172107.4

p.A295S

c.883G>T

3 papers

NM_172107.4

p.L293P

c.878T>C

2 papers

NM_172107.4

p.L293H

c.878T>A

2 papers

NM_172107.4

p.L293F

c.877C>T

3 papers

NM_172107.4

p.L292_L293delins

c.875_877delinsCCT

1 paper

NM_172107.4

p.T296A

c.886A>G

7 papers

NM_172107.4

p.T296P

c.886A>C

8 papers

NM_172107.4

p.L292P

c.875T>C

1 paper

NM_172107.4

p.T296T

c.888C>T

5 papers

NM_172107.4

p.R291S

c.873G>T

5 papers

NM_172107.4

p.R291S

c.873G>C