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

38 papers

NM_000218.3

p.R366Q

c.1097G>A

Surrounding Variants

11 papers

NM_000218.3

p.R366P

c.1097G>C

2 papers

NM_000218.3

p.R366L

c.1097G>T

44 papers

NM_000218.3

p.R366W

c.1096C>T

1 paper

NM_000218.3

p.Q367*

c.1099C>T

1 paper

NM_000218.3

p.N365S

c.1094A>G

1 paper

NM_181798.2

p.Q240R

c.719A>G

2 papers

NM_000218.3

p.N365H

c.1093A>C

7 papers

NM_000218.3

p.Q367H

c.1101G>C

7 papers

NM_000218.3

p.Q367H

c.1101G>T

3 papers

NM_000218.3

p.F364L

c.1092C>A

3 papers

NM_000218.3

p.F364L

c.1092C>G

1 paper

NM_000218.3

p.F364S

c.1091T>C