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

13 papers

NM_000218.3

p.L250H

c.749T>A

Surrounding Variants

4 papers

NM_000218.3

p.L250P

c.749T>C

1 paper

NM_000218.3

p.L251L

c.751C>T

2 papers

NM_000218.3

p.L251Q

c.752T>A

10 papers

NM_000218.3

p.L251P

c.752T>C

1 paper

NM_000218.3

p.R249G

c.745A>G

1 paper

NM_000218.3

p.R249fs

c.745_746fs

3 papers

NM_000218.3

p.W248*

c.744G>A

1 paper

NM_000218.3

p.G252S

c.754G>A

6 papers

NM_000218.3

p.W248C

c.744G>C

1 paper

NM_000218.3

p.G252R

c.754G>C

4 papers

NM_000218.3

p.W248C

c.744G>T

2 papers

NM_000218.3

p.W248*

c.743G>A