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

2 papers

NM_000218.3

p.W15R

c.43T>C

Surrounding Variants

3 papers

NM_000218.3

p.W15*

c.44G>A

1 paper

NM_000218.3

p.W15S

c.44G>C

1 paper

NM_000218.3

p.W15L

c.44G>T

3 papers

NM_000218.3

p.W15*

c.45G>A

1 paper

NM_000218.3

p.R14H

c.41G>A

2 papers

NM_000218.3

p.W15C

c.45G>C

5 papers

NM_000218.3

p.R14L

c.41G>T

1 paper

NM_000218.3

p.W15C

c.45G>T

1 paper

NM_000218.3

p.R14S

c.40C>A

20 papers

NM_000218.3

p.R14C

c.40C>T

1 paper

NM_000218.3

p.G16R

c.46G>C

2 papers

NM_000218.3

p.K13K

c.39G>A