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.Y280fs

c.838_839fs

Surrounding Variants

7 papers

NM_172107.4

p.Y280H

c.838T>C

1 paper

NM_172107.4

p.Y280C

c.839A>G

1 paper

NM_172107.4

p.Y280S

c.839A>C

2 papers

NM_172107.4

p.G279V

c.836G>T

3 papers

NM_172107.4

p.G279D

c.836G>A

1 paper

NM_172107.4

p.Y280delFs

c.839delT

13 papers

NM_172107.4

p.G281W

c.841G>T

10 papers

NM_172107.4

p.G279C

c.835G>T

22 papers

NM_172107.4

p.G281R

c.841G>C

32 papers

NM_172107.4

p.G279S

c.835G>A

23 papers

NM_172107.4

p.G281R

c.841G>A

4 papers

NM_172107.4

p.G281E

c.842G>A