Varaico: Literature-Extracted Genetic Variants

KCNQ1

2,217 papers

RefSeq Summary

This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, ...

Pfam Domains

Ion_transaa 122–359UCSCIon transport protein

KCNQ_channelaa 483–620UCSCKCNQ voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily Q member 1

HGNC Previous Symbols

LQT; KCNA9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000218.3

p.A336T

c.1006G>A

Surrounding Variants

1 paper

NM_000218.3

p.A336P

c.1006G>C

3 papers

NM_000218.3

p.A336fs

c.1006_1007fs

2 papers

NM_000218.3

p.A336S

c.1006G>T

11 papers

NM_000218.3

p.A336delFs

c.1008delC

1 paper

NM_000218.3

p.A336D

c.1007C>A

2 papers

NM_000218.3

p.A336G

c.1007C>G

2 papers

NM_000218.3

p.A336V

c.1007C>T

1 paper

NM_000218.3

p.F335L

c.1005T>A

1 paper

NM_000218.3

p.F335L

c.1005T>G

3 papers

NM_000218.3

p.A336A

c.1008C>T

2 papers

NM_000218.3

p.F335Y

c.1004T>A

1 paper

NM_000218.3

p.F335C

c.1004T>G