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.V302I

c.904G>A

Surrounding Variants

1 paper

NM_172107.4

p.V302A

c.905T>C

1 paper

NM_172107.4

p.G301V

c.902G>T

4 papers

NM_172107.4

p.G301A

c.902G>C

4 papers

NM_172107.4

p.G301D

c.902G>A

4 papers

NM_172107.4

p.S303A

c.907T>G

20 papers

NM_172107.4

p.G301S

c.901G>A

2 papers

NM_172107.4

p.S303F

c.908C>T

1 paper

NM_172107.4

p.S303C

c.908C>G

1 paper

NM_172107.4

p.S303delFs

c.907_908delGA

11 papers

NM_172107.4

p.F304S

c.911T>C

1 paper

NM_172107.4

p.F304Y

c.911T>A

10 papers

NM_172107.4

p.F305L

c.913T>C