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

1–12 of 1800 variants

65 papers

NM_172107.4

p.R207W

c.619C>T

64 papers

NM_172107.4

p.T274M

c.821C>T

63 papers

NM_172107.4

p.R201C

c.601C>T

53 papers

NM_172107.4

p.R198Q

c.593G>A

52 papers

NM_172107.4

p.A306T

c.916G>A

51 papers

NM_172107.4

p.R213W

c.637C>T

47 papers

NM_172107.4

p.Y284C

c.851A>G

42 papers

NM_172107.4

p.R201H

c.602G>A

42 papers

NM_172107.4

p.A294V

c.881C>T

41 papers

NM_172107.4

p.R213Q

c.638G>A

38 papers

NM_172107.4

p.R144Q

c.431G>A

33 papers

NM_172107.4

p.R210H

c.629G>A