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

11 papers

NM_172107.4

p.F304S

c.911T>C

Surrounding Variants

1 paper

NM_172107.4

p.F304Y

c.911T>A

10 papers

NM_172107.4

p.F305L

c.913T>C

1 paper

NM_172107.4

p.F304delFs

c.912delG

1 paper

NM_172107.4

p.S303delFs

c.907_908delGA

2 papers

NM_172107.4

p.S303F

c.908C>T

1 paper

NM_172107.4

p.S303C

c.908C>G

4 papers

NM_172107.4

p.S303A

c.907T>G

8 papers

NM_172107.4

p.F305L

c.915C>G

9 papers

NM_172107.4

p.F305L

c.915C>A

1 paper

NM_172107.4

p.A306S

c.916G>T

7 papers

NM_172107.4

p.A306P

c.916G>C

52 papers

NM_172107.4

p.A306T

c.916G>A