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.C151_G156del0

c.452_466del15

Surrounding Variants

3 papers

NM_172107.4

p.W157*

c.471G>A

4 papers

NM_172107.4

p.W157*

c.470G>A

1 paper

NM_172107.4

p.R158fs

c.472_473fs

1 paper

NM_172107.4

p.W157R

c.469T>C

1 paper

NM_172107.4

p.W157R

c.469T>A

1 paper

NM_172107.4

p.R158insFs

c.472dupA

5 papers

NM_172107.4

p.G159R

c.475G>C

5 papers

NM_172107.4

p.G159R

c.475G>A

2 papers

NM_172107.4

p.G159V

c.476G>T

10 papers

NM_172107.4

p.G159E

c.476G>A

1 paper

NM_172107.4

p.G156S

c.466G>A

1 paper

NM_172107.4

p.R155L

c.464G>T