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

4 papers

NM_000218.3

p.G245fs

c.733_734fs

Surrounding Variants

7 papers

NM_000218.3

p.G245R

c.733G>A

7 papers

NM_000218.3

p.G245R

c.733G>C

4 papers

NM_000218.3

p.G245*

c.733G>T

1 paper

NM_000218.3

p.G245E

c.734G>A

1 paper

NM_000218.3

p.G245A

c.734G>C

5 papers

NM_000218.3

p.G245V

c.734G>T

2 papers

NM_000218.3

p.Q244R

c.731A>G

5 papers

NM_000218.3

p.G245delFs

c.733_734delGG

3 papers

NM_000218.3

p.Q244*

c.730C>T

1 paper

NM_000218.3

p.G246A

c.737G>C

48 papers

NM_000218.3

p.R243H

c.728G>A

7 papers

NM_000218.3

p.R243P

c.728G>C