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.D212G

c.635A>G

Surrounding Variants

2 papers

NM_172107.4

p.D212A

c.635A>C

5 papers

NM_172107.4

p.D212Y

c.634G>T

6 papers

NM_172107.4

p.D212E

c.636C>G

7 papers

NM_172107.4

p.D212E

c.636C>A

51 papers

NM_172107.4

p.R213W

c.637C>T

1 paper

NM_172107.4

p.R213G

c.637C>G

1 paper

NM_172107.4

p.M211R

c.632T>G

1 paper

NM_172107.4

p.R213L

c.638G>T

41 papers

NM_172107.4

p.R213Q

c.638G>A

1 paper

NM_172107.4

p.M211V

c.631A>G

32 papers

NM_172107.4

p.R214W

c.640C>T

1 paper

NM_172107.4

p.R210delFs

c.629delC