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

1 paper

NM_000218.3

p.L453_D454insCC

c.1357_1361ins6

Surrounding Variants

2 papers

NM_000218.3

p.L453fs

c.1357_1358fs

1 paper

NM_000218.3

p.D454_D459delFs

c.1360_1375del16

5 papers

NM_000218.3

p.R452Q

c.1355G>A

4 papers

NM_000218.3

p.R452L

c.1355G>T

9 papers

NM_000218.3

p.R452W

c.1354C>T

3 papers

NM_000218.3

p.R452delFs

c.1356delG

1 paper

NM_000218.3

p.D454fs

c.1360_1361fs

1 paper

NM_000218.3

p.R451R

c.1353G>A

8 papers

NM_000218.3

p.R451Q

c.1352G>A

12 papers

NM_000218.3

p.H455Y

c.1363C>T

NM_181798.2

p.H328Y

c.982C>T

5 papers

NM_000218.3

p.R451W

c.1351C>T

2 papers

NM_000218.3

p.E450G

c.1349A>G