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.S199C

c.595A>T

Surrounding Variants

2 papers

NM_172107.4

p.R198fs

c.592_593fs

1 paper

NM_172107.4

p.R198delins

c.594delinsA

53 papers

NM_172107.4

p.R198Q

c.593G>A

1 paper

NM_172107.4

p.V191_R198del0

c.572_592del21

1 paper

NM_172107.4

p.R198fs

c.592_593fs

1 paper

NM_172107.4

p.L200M

c.598C>A

2 papers

NM_172107.4

p.L200P

c.599T>C

1 paper

NM_172107.4

p.S199_L200delFs

c.597_598delGG

8 papers

NM_172107.4

p.L197P

c.590T>C

1 paper

NM_172107.4

p.A196delFs

c.587_588delCG

63 papers

NM_172107.4

p.R201C

c.601C>T

42 papers

NM_172107.4

p.R201H

c.602G>A