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.I134N

c.401T>A

Surrounding Variants

1 paper

NM_172107.4

p.I134V

c.400A>G

1 paper

NM_172107.4

p.V135L

c.403G>T

1 paper

NM_172107.4

p.V135L

c.403G>C

1 paper

NM_172107.4

p.V135M

c.403G>A

1 paper

NM_172107.4

p.I134delFs

c.402delG

2 papers

NM_172107.4

p.V135A

c.404T>C

1 paper

NM_172107.4

p.T133A

c.397A>G

1 paper

NM_172107.4

p.T133P

c.397A>C

1 paper

NM_172107.4

p.V136L

c.406G>T

1 paper

NM_172107.4

p.V136A

c.407T>C

3 papers

NM_172107.4

p.V132M

c.394G>A

1 paper

NM_172107.4

p.F137V

c.409T>G