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

3 papers

NM_172107.4

p.R144G

c.430C>G

Surrounding Variants

15 papers

NM_172107.4

p.R144W

c.430C>T

1 paper

NM_172107.4

p.E140_R144ins1

c.419_430dup12

1 paper

NM_172107.4

p.R144P

c.431G>C

38 papers

NM_172107.4

p.R144Q

c.431G>A

3 papers

NM_172107.4

p.V143L

c.427G>T

3 papers

NM_172107.4

p.V143L

c.427G>C

1 paper

NM_172107.4

p.V143M

c.427G>A

2 papers

NM_172107.4

p.F142F

c.426C>T

2 papers

NM_172107.4

p.F142L

c.426C>G

2 papers

NM_172107.4

p.F142L

c.426C>A

3 papers

NM_172107.4

p.W146R

c.436T>C

2 papers

NM_172107.4

p.F142L

c.424T>C